ClinVar Miner

Submissions for variant NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=)

gnomAD frequency: 0.00003  dbSNP: rs373835578
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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 RCV002540800 SCV001054744 likely benign 46,XY sex reversal 6 2020-08-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003968383 SCV004782457 likely benign MAP3K1-related disorder 2019-10-28 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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