ClinVar Miner

Submissions for variant NM_000431.4(MVK):c.769-38C>T

gnomAD frequency: 0.16489  dbSNP: rs35191208
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712470 SCV000604314 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513222 SCV001720798 benign Mevalonic aciduria; Porokeratosis 3, disseminated superficial actinic type; Hyperimmunoglobulin D with periodic fever 2023-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001712470 SCV001940765 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22246419, 27884173, 27190114)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002263715 SCV002542341 benign Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003488641 SCV004234018 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 28% of patients studied by a panel of primary immunodeficiencies. Number of patients: 25. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712470 SCV005237674 benign not provided criteria provided, single submitter not provided

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