ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1040-5C>T

dbSNP: rs150276185
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253114 SCV000304222 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001455107 SCV001658860 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-18 criteria provided, single submitter clinical testing

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