ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.371+9G>A

gnomAD frequency: 0.00001  dbSNP: rs551460898
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506149 SCV000604322 likely benign not specified 2016-09-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001434061 SCV001636862 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-06-27 criteria provided, single submitter clinical testing

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