ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.3667-7T>C

gnomAD frequency: 0.00004  dbSNP: rs117348142
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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 RCV001516768 SCV001725113 benign 46,XY sex reversal 6 2022-07-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956177 SCV004776054 likely benign MAP3K1-related disorder 2020-02-20 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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