ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1128C>T (p.Gly376=)

gnomAD frequency: 0.00023  dbSNP: rs147662789
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001655711 SCV001471489 likely benign not provided 2020-06-15 criteria provided, single submitter clinical testing
Invitae RCV001418126 SCV001620349 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001655711 SCV001870002 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003887989 SCV004707734 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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