ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.1005C>T (p.Gly335=)

gnomAD frequency: 0.00001  dbSNP: rs104895357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606015 SCV000726720 likely benign not specified 2018-01-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000685302 SCV000812780 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-11 criteria provided, single submitter clinical testing
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000083812 SCV000115914 not provided Hyperimmunoglobulin D with periodic fever no assertion provided not provided

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