ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.677+12G>T

dbSNP: rs539146613
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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 RCV002205761 SCV002362453 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004690241 SCV005185212 likely benign not specified 2024-05-20 criteria provided, single submitter clinical testing

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