ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.15G>A (p.Ala5=)

gnomAD frequency: 0.00141  dbSNP: rs759046760
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002183051 SCV002421753 benign 46,XY sex reversal 6 2025-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434425 SCV004162843 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MAP3K1: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV003434425 SCV005301104 benign not provided criteria provided, single submitter not provided

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