ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=)

gnomAD frequency: 0.00351  dbSNP: rs55912465
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878022 SCV001020862 benign 46,XY sex reversal 6 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424424 SCV004162851 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BP7, BS2

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