ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.138G>A (p.Glu46=)

gnomAD frequency: 0.00052  dbSNP: rs1051867310
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000946357 SCV001092486 likely benign 46,XY sex reversal 6 2019-12-31 criteria provided, single submitter clinical testing

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