ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins Ntd Llc (ga) and "likely pathogenic" from Labcorp Genetics (formerly Invitae), Labcorp

Minimum review status of the submission from Eurofins Ntd Llc (ga): Collection method of the submission from Eurofins Ntd Llc (ga):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 61
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HGVS dbSNP gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys) rs200153795 0.00004
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
Single allele

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