ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.*58dup (rs397714540)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000385099 SCV000375802 likely benign Hyperimmunoglobulin D with periodic fever 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268790 SCV000375803 likely benign Mevalonic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV001516699 SCV001725015 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2020-11-24 criteria provided, single submitter clinical testing

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