ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.534C>G (p.Thr178=)

dbSNP: rs749860412
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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 RCV001418045 SCV001620266 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2022-08-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004540289 SCV004780402 likely benign MVK-related disorder 2020-03-30 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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