ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.762C>T (p.Gly254=)

gnomAD frequency: 0.00148  dbSNP: rs199726815
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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 RCV002066308 SCV002407972 benign 46,XY sex reversal 6 2021-04-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943046 SCV004765159 likely benign MAP3K1-related disorder 2020-01-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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