ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.975C>T (p.Arg325=)

gnomAD frequency: 0.00011  dbSNP: rs748947620
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000645105 SCV000766847 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000994975 SCV001148820 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000994975 SCV001863258 likely benign not provided 2018-10-18 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263886 SCV002542355 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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