ClinVar Miner

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

dbSNP: rs397714540
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000385099 SCV000375802 likely benign Hyperimmunoglobulin D with periodic fever 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000268790 SCV000375803 likely benign Mevalonic aciduria 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516699 SCV001725015 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001597063 SCV001831340 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488519 SCV004234026 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.

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