ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.2179+16T>G

gnomAD frequency: 0.00271  dbSNP: rs201491763
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514624 SCV000609836 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060191 SCV002477006 benign 46,XY sex reversal 6 2024-12-12 criteria provided, single submitter clinical testing

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