ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln)

gnomAD frequency: 0.00002  dbSNP: rs1454725137
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002535021 SCV003474438 likely benign 46,XY sex reversal 6 2024-10-24 criteria provided, single submitter clinical testing
Center for Statistical Genetics, Columbia University RCV000754564 SCV000853302 uncertain significance Hearing impairment 2018-10-08 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000754564 SCV001439100 uncertain significance Hearing impairment no assertion criteria provided research

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