ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.227-20C>A

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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 RCV003791944 SCV004586787 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-08-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003791944 SCV005632677 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-06-08 criteria provided, single submitter clinical testing

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