ClinVar Miner

Submissions for variant NM_005204.4(MAP3K8):c.1056C>T (p.Asp352=)

gnomAD frequency: 0.00157  dbSNP: rs137991584
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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 RCV002106770 SCV002324005 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004754833 SCV005354279 likely benign MAP3K8-related disorder 2024-04-18 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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