ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.670T>C (p.Leu224=)

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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 RCV003780740 SCV004570356 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004546812 SCV005041269 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing MVK: BP4, BP7

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