ClinVar Miner

Variants with conflicting interpretations "likely benign" from GeneDx and "pathogenic" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 34
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HGVS dbSNP gnomAD frequency
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000483.5(APOC2):c.229A>C (p.Lys77Gln) rs5126 0.00784
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser) rs116621885 0.00569
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
Single allele rs114666055 0.00493
NM_001085.5(SERPINA3):c.754C>G (p.Pro252Ala) rs17473 0.00322
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00229
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001319206.4(MEF2A):c.782A>G (p.Asn261Ser) rs121918530 0.00091
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_000041.4(APOE):c.91G>A (p.Glu31Lys) rs201672011 0.00049
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_033118.4(MYLK2):c.260C>T (p.Ala87Val) rs121908107 0.00014
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000350.3(ABCA4):c.4225A>G (p.Ile1409Val) rs2101035728
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001453.3(FOXC1):c.-244C>T rs185790394
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_022124.6(CDH23):c.9199-4G>A rs369900526

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