ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.450G>C (p.Ser150=)

dbSNP: rs201123232
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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 RCV001413985 SCV001616109 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-11-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003738065 SCV004562646 likely benign not provided 2023-09-20 criteria provided, single submitter clinical testing

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