ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.681G>A (p.Ser227=)

gnomAD frequency: 0.00004  dbSNP: rs764412001
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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 RCV001247038 SCV001420436 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001247038 SCV005632710 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-06-12 criteria provided, single submitter clinical testing

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