ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.18A>G (p.Leu6=)

gnomAD frequency: 0.00001  dbSNP: rs1474470230
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531166 SCV001746154 likely benign not provided 2021-05-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003771644 SCV004575706 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-02-25 criteria provided, single submitter clinical testing

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