ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.300C>T (p.Asp100=)

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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 RCV003781478 SCV004573478 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539128 SCV004755021 likely benign MVK-related disorder 2019-07-01 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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