ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.630G>A (p.Trp210Ter)

dbSNP: rs1593021917
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV001002702 SCV001156404 pathogenic Hyperimmunoglobulin D with periodic fever 2019-02-01 criteria provided, single submitter clinical testing

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