ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2398+49G>A

gnomAD frequency: 0.40159  dbSNP: rs4889997
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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 RCV001554347 SCV001775569 benign Pityriasis rubra pilaris 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554348 SCV001775570 benign Psoriasis 2 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713046 SCV001942093 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399361 SCV004102241 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 43% of patients studied by a panel of primary immunodeficiencies. Number of patients: 41. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001713046 SCV005248817 benign not provided criteria provided, single submitter not provided

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