ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1040-4G>A

gnomAD frequency: 0.00001  dbSNP: rs748756524
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001503377 SCV001708232 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-11-27 criteria provided, single submitter clinical testing

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