ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Eurofins NTD LLC (GA) and "pathogenic" from PreventionGenetics, part of Exact Sciences

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: 30
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HGVS dbSNP gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012 0.00029
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg) rs143312232 0.00003
NM_206933.4(USH2A):c.7595-3C>G rs201657446 0.00003
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_003119.4(SPG7):c.1A>G (p.Met1Val) rs794726906 0.00001
NM_005247.4(FGF3):c.283C>T (p.Arg95Trp) rs281860303 0.00001
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser) rs886042260
NM_000155.4(GALT):c.289_291del (p.Asn97del) rs398123179
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000372.5(TYR):c.1424_1433del (p.Trp475fs) rs1402167763
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_001165963.4(SCN1A):c.2791C>T (p.Arg931Cys) rs121918788
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001368894.2(PAX6):c.664C>T (p.Arg222Trp) rs757259413
NM_001849.4(COL6A2):c.1770+1del rs886044215
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_020751.3(COG6):c.1167-24A>G rs730882236

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