ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.855C>T (p.Ala285=)

gnomAD frequency: 0.00006  dbSNP: rs550696805
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001470246 SCV001674341 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738076 SCV004565303 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533816 SCV004719334 likely benign MVK-related disorder 2019-08-28 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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