ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.349_350del (p.Leu117fs)

dbSNP: rs1593015642
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788596 SCV000927763 likely pathogenic not provided 2018-06-25 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003989122 SCV004805715 pathogenic Hyperimmunoglobulin D with periodic fever 2024-03-29 criteria provided, single submitter clinical testing

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