ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys)

gnomAD frequency: 0.02871  dbSNP: rs45556841
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000549518 SCV000650503 benign 46,XY sex reversal 6 2025-02-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001573293 SCV004162849 benign not provided 2023-11-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001573293 SCV005301129 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573293 SCV001798943 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727751 SCV001970741 benign not specified no assertion criteria provided clinical testing

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