ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.210G>T (p.Leu70=)

gnomAD frequency: 0.00001  dbSNP: rs199811011
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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 RCV002262073 SCV002542327 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Invitae RCV003774820 SCV004579033 likely benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-06-28 criteria provided, single submitter clinical testing

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