ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.297C>T (p.Asp99=)

gnomAD frequency: 0.00004  dbSNP: rs376323791
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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 RCV001428727 SCV001631434 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2018-07-12 criteria provided, single submitter clinical testing
GeneDx RCV000912022 SCV001849574 likely benign not provided 2020-02-24 criteria provided, single submitter clinical testing

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