ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=)

gnomAD frequency: 0.00772  dbSNP: rs2229883
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648707 SCV000770528 benign 46,XY sex reversal 6 2023-12-11 criteria provided, single submitter clinical testing

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