ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.519C>T (p.Cys173=)

gnomAD frequency: 0.00001  dbSNP: rs554487221
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000686 SCV001157723 likely benign not specified 2019-01-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769379 SCV004588179 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-12 criteria provided, single submitter clinical testing

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