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: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000648707 SCV000770528 benign 46,XY sex reversal 6 2025-01-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717702 SCV005301122 benign not provided criteria provided, single submitter not provided

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