ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.877G>T (p.Val293Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005004812 SCV005632722 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-02-29 criteria provided, single submitter clinical testing

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