偑傫堚揱巕僷僱儖夝愅巟墖僜僼僩 Varporter

丂摉僙儞僞乕偼偑傫僎僲儉堛椕嫆揰昦堾偲偟偰丆2023擭搙偺CGP専嵏偵娭偟偰偼丆堾撪丗305椺丆楢実丗97椺偺専嵏幚巤幚愌偑偁傝傑偟偨丏僄僉僗僷乕僩僷僱儖偼寧俀夞奐嵜偝傟丆偄傢備傞Germline Findings偵娭偟偰偼丆扴摉堛偺僠僃僢僋偺懠偵丆帠慜偵堚揱愱栧怑乮椪彴堚揱愱栧堛丆擣掕堚揱僇僂儞僙儔乕偦傟偧傟1柤乯偍傛傃僎僲儉堛椕愑擟幰乮1柤乯偺3柤偱丆姵幰偝傫偵奐帵偡傋偒PGPV傑偨偼Germline Findings偵偮偄偰専摙傪峴偭偰偍傝傑偡丏
丂Varporter偼2022擭7寧傛傝摉僙儞僞乕偵摫擖偝傟傑偟偨丏巹帠偱偡偑丆2024擭4寧傛傝摉僙儞僞乕偵晪擟偟弶傔偰Varporter傪巊梡偡傞偙偲偵側傝傑偟偨丏Varporter偺桪傟偰偄傞揰偼丆堦恖堦恖偺儗億乕僩傪屄暿偵尒偰偄偔偺偱偼側偔丆拪弌丒摑崌偝傟偨僄僉僗僷乕僩僷僱儖侾夞暘偺僨乕僞僼傽僀儖偵偍偄偰僜乕僩婡擻傪巊梡偡傞偙偲偑偱偒傞揰偱偡丏偦傟偵傛傝丆徢椺偛偲偵堦偮堦偮偺堚揱巕偺昡壙傪峴偆偺偱偼側偔丆堚揱巕偛偲偵慡徢椺偺僶儕傾儞僩忣曬傪妋擣偡傞偙偲偑偱偒傑偡丏堚揱巕傪慖戰偟偨屻丆墫婎攝楍忣曬丆VAF丆僨乕僞儀乕僗忣曬傪婎偵僜乕僩偱偒傑偡偺偱丆偁偲偼彫悪斍偺僼儘乕僠儍乕僩偵廬偭偰丆曉媝偡傋偒偐偳偆偐傪敾抐偱偒傑偡丏僰儖僶儕傾儞僩偐偳偆偐丆傑偨儈僗僙儞僗曄堎偱偁傟偽捈愙儕儞僋偟偰偄傞ClinVar偺僒僀僩傪尒傟偽堦栚偱敾抐偱偒傑偡丏儈僗僙儞僗曄堎偺応崌偱丆偐偮ClinVar偱Conflicting classifications of pathogenicity偺昞婰偺応崌偼徻嵶傪妋擣偡傞昁梫偑偁傝傑偡偑丆ClinVar偺僒僀僩偵捈愙儕儞僋偟偰偄傞偺偱丆娙曋偵敾抐偑壜擻偱偡丏
丂傑偨ClinVar偺僒僀僩偵枹搊榐偺僶儕傾儞僩偺応崌偵偼丆帺恎偱夁晄懌側偔ACMG婎弨傪敾掕偡傞昁梫偑偁傝傑偡偑丆偦偺傛偆側応崌偵Varsome傊捈愙儕儞僋偟偰偄傞偙偲傕戝曄曋棙偱偡丏埲慜偼奺庬僨乕僞儀乕僗傊傾僋僙僗偡傞応崌偵丆偦傟偧傟偺儂乕儉儁乕僕偺堚揱巕偺昞婰朄偑堎側傞偨傔丆娫堘偭偰擖椡偡傞偲専嶕偑晄壜擻偱偁偭偨傝丆堘偆僶儕傾儞僩偵儕儞僋偟偰偟傑偆儕僗僋偑偁偭偨傝偟傑偟偨偑丆捈愙儕儞僋婡擻偵傛傝儕僗僋偑尭傝尰応偺楯椡偺寉尭偵峷專偟偰偄傞偲峫偊偰偍傝傑偡丏
丂捠忢偺堛椕偵偍偄偰丆専嵏寢壥偺寢壥夝庍傪尰応偺堛椕幰偑峴偆偙偲偼婬偱偡偑丆偑傫僎僲儉堛椕偱偼専嵏夛幮偺夝愅寢壥傪僄僉僗僷乕僩僷僱儖偱敾抐偡傞偲偄偆棫偰晅偗偵側偭偰偍傝丆尰応偺娭學幰偼懡偔偺晧扴傪嫮偄傜傟偰偄傞偙偲偲巚偄傑偡丏偦偺傛偆側忬嫷偺拞偱Varporter偼晧扴寉尭偵栶棫偮偲偲傕偵椪彴揑偵傕桳梡側僣乕儖偲偟偰廳曮偝傟傞偲妋怣偟偰偍傝傑偡丏
乮2024/7/5乯戝嶃崙嵺偑傫僙儞僞乕 堚揱巕恌椕晹

丂摉堾偼堦抧曽巹棫戝妛偱偼偁傝傑偡偑丆偑傫僎僲儉堛椕嫆揰昦堾偲偟偰楢実昦堾偲偲傕偵擭娫偵200審庛偺徢椺偺Comprehensive Genome Profiling乮CGP乯僥僗僩屻偺僄僉僗僷乕僩僷僱儖乮埲壓EP乯傪峴偭偰偍傝傑偡丏娭楢昦堾偑彮側偔丆CGP僥僗僩審悢傕朿戝偱偼側偄偙偲偐傜丆摉巤愝偱偼EP巟墖僔僗僥儉偺摫擖傗EP偺慜抜奒偵昁梫側専嵏曬崘彂偐傜偺僉儏儗乕僔儑儞丆帒椏嶌惉偵娭偟偰偺曗彆偼擣傔傜傟傑偣傫偱偟偨丏偦偺偨傔丆CGP奐巒弶擭搙偐傜偼慡偔偺庤嶌嬈偱偺帒椏嶌惉傪嫮偄傜傟偰偍傝傑偟偨丏偝傜偵儅儞僷儚乕晄懌偺栤戣傕偁傝丆僼儔僗僩儗乕僔儑儞偑偨傑傞堦曽偱偟偨丏
丂Varporter偺懚嵼偼丆恄撧愳導棫偑傫僙儞僞乕偺淎搰岾旻愭惗偵偛嫵庼偄偨偩偒丆昦堾幏峴晹偵妡偗崌偭偰2023擭偵傛偆傗偔摫擖偟偰偄偨偩偒傑偟偨丏偄傑傑偱専嵏偺僆儕僕僫儖XML僼傽僀儖僨乕僞丆専嵏曬崘彂偲C-CAT忣曬傪尒斾傋側傜偑庤嶌嬈偱偡傋偰偺堚揱巕僶儕傾儞僩忣曬偺専嶕傪web儁乕僕傪拃堦奐偄偰妋擣偟偰偄傑偟偨偑丆Varporter摫擖偵傛傝偦偺嬯擄偐傜奐曻偝傟傑偟偨丏傑偨丆庤嶌嬈偺揮婰偺偨傔偵昿斏偵婲偙偭偰偄偨妋擣楻傟傗揮婰儈僗傕Varporter偱夝徚偝傟傑偟偨丏偝傜偵Varporter偱嶌惉偝傟偨帒椏偼僄僋僙儖僔乕僩偲偟偰壛岺偑壜擻側偨傔丆偦偙偵偝傜偵撈帺偺忣曬傪捛壛偱偒僇僗僞儅僀僘惈傕旕忢偵崅偄偲姶偠偰偄傑偡丏
丂傑偨丆Varporter偱嶌惉偝傟偨僄僋僙儖僔乕僩傪捠偠偰偺堚揱巕僶儕傾儞僩偵娭偡傞忣曬偼丆庡偩偭偨堚揱巕僶儕傾儞僩偺専嶕僒僀僩偑栐梾偝傟偰偍傝丆忣曬検偑旕忢偵朙晉偱偡丏堦曽偱丆Secondary Finding乮SF乯偵娭楢偟偨堚揱巕僶儕傾儞僩偵偮偄偰傕Varporter張棟屻旕忢偵柧妋偵昞帵偝傟傞偨傔堚揱僇僂儞僙儔乕偺曽偺嶌嬈岠棪傕戝偒偔夵慞偟偰偍傝傑偡丏
丂梋択偱偼偁傝傑偡偑丆摉曽偺PC偺僙僉儏儕僥傿偺栤戣偱Varporter偑嶌摦偣偢丆傎偲傎偲崲偭偰偍傝傑偟偨偑丆web傪捠偟偰偄傠偄傠偲傾僪僶僀僗傪捀偒傑偟偨丏偝傜偵丆嵟嬤CGP専嵏偲偟偰偁傜偨偵椪彴摫擖偝傟偨Guardant360傗懠僷僱儖僥僗僩斉偵傕捛壛晧扴柍偟偱懳墳偟偰捀偄偰偍傝丆Varporter嶌惉幰偺堜屗愳夒巎愭惗偍傛傃偦偺娭學偺曽乆偵怱傛傝怺幱怽偟忋偘傑偡丏
乮2024/7/2乯媣棷暷戝妛昦堾 庮釃僙儞僞乕

丂摉堾偼偑傫僎僲儉堛椕嫆揰昦堾偲偟偰丆枅廡5-10徢椺慜屻偺僄僉僗僷乕僩僷僱儖傪幚巤偟偰偄傑偡丏僄僉僗僷乕僩僷僱儖偺悢擔慜偵丆彮恖悢偺乽僐傾儊儞僶乕乿偵傛傞帠慜専摙傪峴偄丆偦偺廡偺徢椺偺専嵏寢壥偲悇彠帯椕傪妋擣偟偰偄傑偡偑丆専嵏夛幮偺儗億乕僩偼僷僱儖偵傛偭偰宍幃傗撪梕偑堎側偭偰偄傞偙偲丆傑偨専嵏儗億乕僩偺傎偐偵傕C-CAT挷嵏寢壥曬崘彂丆web忋偺僨乕僞儀乕僗摍丆暋悢偺僼傽僀儖傗web傪奐偔昁梫偑偁傝丆妋擣嶌嬈偑暋嶨壔偟偰丆専摙楻傟傗僄儔乕傪婲偙偡嫲傟偑偁傝丆摢傪擸傑偣偰偄傑偟偨丏懳嶔偺堦偮偲偟偰丆摉堾僄僉僗僷乕僩僷僱儖偱偼丆1徢椺偛偲偵丆帠慜偵専嵏寢壥偲帯椕栻偺岓曗傪堦偮偺昞偵傑偲傔偨傕偺傪嶌惉偟偰偄傑偡丏僄僉僗僷乕僩僷僱儖嬈柋偺拞偱Varporter偼丆xml僼傽僀儖偐傜僶儕傾儞僩傪敳偒弌偟丆忋婰偺昞傪嶌惉偡傞梡搑丆僶儕傾儞僩偺昦揑堄媊偺専摙丆PGPV偺妋擣偵妶梡偟偰偄傑偡丏Varporter傪巊梡偟偰傒偰丆庤嶌嬈偵傛傞僄儔乕偑杊巭偝傟傞偲偲傕偵丆Clinvar傗Varsome側偳偺僨乕僞儀乕僗傊偺儕儞僋偑嶌惉偝傟傞偨傔丆奺儗億乕僩娫偱偺僶儕傾儞僩偺昦揑堄媊偺婰嵹偑堎側傝嵞昡壙傪昁梫偲偡傞応崌側偳偵嵟怴偺忣曬偵儚儞僋儕僢僋偱傾僋僙僗偱偒傞偙偲偑偲偰傕栶棫偭偰偄傑偡丏傑偨丆壙奿傕椙怱揑偱僒億乕僩偑庤岤偄偙偲傕岲昡偱偡丏
(2024/7/4乯嶉嬍堛壢戝妛崙嵺堛椕僙儞僞乕 偑傫僎僲儉堛椕僙儞僞乕

丂摉堾偺堚揱巕恌椕晹栧偱偼丆擇師揑強尒媈偄僶儕傾儞僩乮Putative Germline Pathogenic Variant: PGPV乯丆傑偨擇師揑強尒僶儕傾儞僩乮Pathogenic Germline Variant: PGV乯偵偮偄偰岤楯壢尋彫悪斍偺僼儘乕偵増偭偰敾抐偟僄僉僗僷乕僩僷僱儖偱丆堚揱奜棃悇彠桳柍偵偮偄偰僐儊儞僩偟偰偍傝傑偡丏Varporter巊梡偵傛傝丆偡傋偰偺僶儕傾儞僩傪弖帪偵堦棗偱妋擣偡傞偙偲偑偱偒傞傛偆偵側傝丆germline桼棃偺壜擻惈偵偮偄偰懡妏揑側帇揰偱専摙偱偒傞傛偆偵側傝傑偟偨丏傑偨丆彫悪斍偺儕僗僩偵奩摉偡傞堚揱巕偐斲偐妋幚偵僗僋儕乕僯儞僌偡傞偙偲偑偱偒傞揰傗昿搙傗僶儕傾儞僩昡壙偺僒僀僩傪偡偖偵嶲徠偱偒傞揰傕丆僗僋儕乕僯儞僌嶌嬈岠棪壔偵宷偑偭偰偍傝戝曄彆偐偭偰偍傝傑偡丏
(2023/3/27)

丂摉堾偱偼偑傫僎僲儉堛椕嫆揰昦堾偲偟偰擭娫500審掱搙乮帺巤愝400審丆楢実100審乯偺徢椺傪僄僉僗僷乕僩僷僱儖乮埲壓EP乯偱専摙偟偰偄傑偡丏摉堾偱偼EP偺慜偵嘆 Molecular MTG偲嘇 Clinical MTG偺2偮偺帠慜儈乕僥傿儞僌傪幚巤偟偰偄傑偡丏嘆 Molecular MTG偱偼偑傫堚揱巕僷僱儖専嵏偱専弌偝傟偨堚揱巕曄堎偵偮偄偰Pathogenicity乮昦尨惈乯偲PGPV乮presumed germline pathogenic variant丆惗怋嵶朎宯楍桼棃偱偁傞偙偲偑悇掕偝傟傞昦揑僶儕傾儞僩乯偵偮偄偰専摙偟丆昦揑偲敾掕偟偨堚揱巕曄堎偵偮偄偰嘇 Clinical MTG偱悇彠帯椕偵偮偄偰専摙偡傞偲偄偆棳傟偲側偭偰偄傑偡丏偙偺塣梡偺拞偱儃僩儖僱僢僋偲側傞偺偑嘆 Molecular MTG偱巊梡偡傞Curation儗億乕僩偺嶌惉偵側傝傑偡丏Curation儗億乕僩偼慡偰偺堚揱巕曄堎偵偮偄偰ClinVar側偳7庬椶埲忋偺岞嫟僨乕僞儀乕僗偺撪梕傪傑偲傔偨傕偺偱丆摉堾偱偼庤嶌嬈偱XML僼傽僀儖偐傜堚揱巕曄堎忣曬傪僄僋僙儖僼傽僀儖偵揮婰偟丆奺乆偺僨乕僞儀乕僗傪嶲徠偟偰昁梫忣曬傪婰擖偟偰嶌惉偟偰偍傝丆曄堎悢偺懡偄徢椺偱偼1帪娫掱搙梫偡傞偙偲傕偁傝丆壗偲偐帺摦壔偱偒側偄偐偲峫偊偰偍傝傑偟偨丏尰忬丆婔偮偐偺EP巟墖僔僗僥儉偱Curation偑帺摦壔偝傟偰偄傑偡偑丆偳傟傕崅妟偱摫擖偼擄偟偄偲峫偊偰偄傑偟偨丏
丂偦傫側拞丆Varporter偺僨儌巊梡偺徯夘偑偁傝丆憗懍巊梡偟偰傒傑偟偨丏傑偢巊梡偟偰嬃偄偨偺偑丆僄僋僙儖儀乕僗偺僔儞僾儖側僔僗僥儉偱巊偄曽偑旕忢偵娙扨丆摦嶌偑憗偔丆寉偄偲偄偆揰偱偟偨丏傑偨丆XML僼傽僀儖偐傜帺摦偱曄堎忣曬傪拪弌丆儕僗僩壔偟丆Curation儗億乕僩偵昁梫側僨乕僞儀乕僗偺杦偳偺忣曬偑帺摦擖椡偝傟丆偟偐傕奩摉Web儁乕僕偵儕儞僋偑揬傜傟偰偄傞偺偱丆忣曬僜乕僗傪偡偖偵嶲徠偡傞偙偲偑偱偒傞揰偑傑偝偵乽醳偄偲偙傠偵庤偑撏偔乿婡擻偱旕忢偵廳曮偟偰偄傑偡丏
丂巹偼偑傫栻暔椕朄傪愱栧偲偟偰偄傑偡偺偱丆PGPV偵娭偟偰偼彫悪斍偺儕僗僩傪嶲峫偵偡傞掱搙偱徻嵶偼堚揱恌椕壢偵擟偣偰偄偨偺偱偡偑丆Varporter偵偼Varsome側偳PGPV梡偺嶲徠僨乕僞儀乕僗偑廩幚偟偰偄偰丆嶥杫堛戝偱巊梡偝傟偰偄傞徻嵶側堚揱僇僂儞僙儕儞僌僔乕僩傕帺摦嶌惉偝傟傑偡偺偱丆旕忢偵曌嫮偵側傝傑偟偨丏
丂忋婰偺傛偆側廩幚偟偨撪梕偱旕忢偵椙怱揑側壙奿愝掕偱偟偨偺偱丆摉堾偱偼摫擖傪懄寛抳偟傑偟偨丏EP弨旛偺岠棪壔偩偗偱側偔丆PGPV偵嫽枴偺偁傞栻暔椕朄堛偺僗僉儖傾僢僾偵傕桳梡側嫵嵽偵側傞偲峫偊偰偄傑偡丏
(2022/5/18幏昅丆2022/8/23婰柤岞奐) 恄撧愳導棫偑傫僙儞僞乕 偑傫僎僲儉恌椕壢

丂尰嵼丆偑傫僎僲儉堛椕楢実昦堾偵旕忢嬑擣掕堚揱僇僂儞僙儔乕偲偟偰嬑柋偟偰偄傑偡丏擭娫30-50審掱搙偺徢椺偺堚揱巕曄堎偵偮偄偰丆僄僉僗僷乕僩僷僱儖乮EP乯採帵慜偵Secondary Findings乮SF丆2師揑強尒乯偲偟偰奐帵偑昁梫偐斲偐偺昡壙傪峴偭偰偄傑偡丏
丂偙傟傑偱偼丆堚揱巕曄堎偵娭傢傞XML僼傽僀儖忣曬乮曄堎堚揱巕丆曄堎売強丆傾儗儖昿搙側偳乯傗丆奺庬僨乕僞儀乕僗偵傛傞昡壙丆彫悪斍偺儕僗僩忣曬側偳傪庤嶌嬈偱僄僋僙儖僼傽僀儖偵揮婰偟丆SF奐帵梫斲乮埬乯傪嶌惉偟偰偄傑偟偨丏扴摉堛巘偑敾抐偱偒傞傛偆丆昁梫偵墳偠偰丆嶌惉偟偨僄僋僙儖僼傽僀儖偵壛偊偰奺庬僨乕僞儀乕僗偺儕儞僋愭側偳傪忣曬嫟桳僣乕儖偵揮婰偟偰偄傑偟偨丏曄堎堚揱巕悢偺懡偄帪傗丆庤娫偺偐偐傞偲偒乮僨乕僞儀乕僗専嶕帪偵曄堎売強偐傜偼僨乕僞側偟偺応崌偵條乆側傾僾儘乕僠偱妋擣偡傞側偳乯偵偼丆1椺偁偨傝1帪娫傪挻偊傞偙偲傕搙乆偁傝傑偟偨丏埲慜丆偑傫僎僲儉堛椕嫆揰昦堾偵嬑柋偟偰偄偨帪偼丆EP慜偵丆堚揱巕曄堎偺昦尨惈傗惗怋嵶朎桼棃偲悇掕偱偒傞偐側偳傪丆暋悢偺椪彴堚揱愱栧堛偲暋悢偺擣掕堚揱僇僂儞僙儔乕偱媍榑偡傞偙偲偱丆SF偲偟偰偺奐帵昁梫惈傪僟僽儖僠僃僢僋偱偒偰偄傑偟偨偑丆尰嵼偼侾恖偱昡壙偟偰偄傞偺偱丆昡壙偺昳幙偑揔愗偵曐偨傟偰偄傞偐乮懳徾堚揱巕偺廍偄楻傟傗揮婰儈僗側偳偑柍偄偐傪娷傓乯丆傛傝怲廳偵壗搙傕妋擣偡傞昁梫偑偁傝傑偡丏
丂Varporter傪梡偄傞偙偲偱丆廫暘側僗僞僢僼偑偄側偄偑傫僎僲儉楢実昦堾偱傕昳幙偺妋曐偑偱偒丆巊梡曽朄傕堈偟偔丆堚揱巕悢偑懡偔偰傕抁帪娫偱寢壥偑摼傜傟傑偡丏傑偨丆堚揱惈庮釃偺愱栧壠偱偼側偄偑傫僎僲儉堛椕扴摉堛巘偵偲偭偰傕丆奺庬僨乕僞儀乕僗偺儕儞僋偑娙扨偵妋擣偱偒傞偨傔丆廬棃傛傝傕愊嬌揑偵僨乕僞儀乕僗傪妋擣偄偨偩偗傞傛偆偵側傝丆偑傫僎僲儉堛椕偩偗偱側偔丆堚揱惈庮釃傊偺恊嬤姶傕帩偭偰偄偨偩偗傞偲姶偠傑偡丏摉堾偱偼丆偑傫僎僲儉堛椕嫆揰昦堾偵斾妑偟徢椺悢偼彮側偄偱偡偑丆崱屻偺偑傫僎僲儉堛椕偺峀偑傝偵傕懳墳偱偒傞傛偆摫擖梊掕偱偡丏
(2022/5/19)