ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "pathogenic" from any submitter

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 25
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HGVS dbSNP
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000426.3(LAMA2):c.8244+3_8244+6del rs746678525
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000454.4(SOD1):c.289G>A (p.Asp97Asn) rs121912459
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_003042.4(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_004984.4(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_006796.2(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_007126.5(VCP):c.478G>C (p.Ala160Pro) rs1554668805
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser) rs371019314
NM_014874.3(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014946.4(SPAST):c.1276C>T rs1060502227
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924
NM_182961.4(SYNE1):c.16390-2A>C rs759460806

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