ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia and "pathogenic" from any submitter

Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684

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