ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln)

gnomAD frequency: 0.00003  dbSNP: rs780666910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002031230 SCV002317029 likely benign 46,XY sex reversal 6 2024-10-07 criteria provided, single submitter clinical testing
GeneDx RCV002508335 SCV002817834 uncertain significance not provided 2022-06-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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