ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2398+30A>G

gnomAD frequency: 0.41701  dbSNP: rs4889996
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554343 SCV001775565 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554344 SCV001775566 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001638166 SCV001849269 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003394140 SCV004102074 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 54% of patients studied by a panel of primary immunodeficiencies. Number of patients: 52. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001638166 SCV005248815 benign not provided criteria provided, single submitter not provided

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