ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.843G>T (p.Glu281Asp)

dbSNP: rs758317084
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262075 SCV002542349 uncertain significance Autoinflammatory syndrome 2022-02-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005002812 SCV005632719 uncertain significance Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2024-05-12 criteria provided, single submitter clinical testing

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