ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.226+9A>G

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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 RCV003800533 SCV004593425 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-01-19 criteria provided, single submitter clinical testing

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