ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.999C>T (p.Gly333=)

gnomAD frequency: 0.00003  dbSNP: rs147904100
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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 RCV002262077 SCV002542356 uncertain significance Autoinflammatory syndrome 2020-10-06 criteria provided, single submitter clinical testing
Invitae RCV003095940 SCV002950213 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-15 criteria provided, single submitter clinical testing

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