ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.597C>T (p.His199=)

gnomAD frequency: 0.00001  dbSNP: rs781610164
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001200516 SCV001371496 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005094066 SCV005832989 likely benign 46,XY sex reversal 6 2025-01-09 criteria provided, single submitter clinical testing

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