ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2481C>T (p.Pro827=)

gnomAD frequency: 0.07175  dbSNP: rs61757652
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001516554 SCV001724850 benign Pityriasis rubra pilaris; Psoriasis 2 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712925 SCV001946391 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399297 SCV004102461 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 25% of patients studied by a panel of primary immunodeficiencies. Number of patients: 24. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001712925 SCV005248824 benign not provided criteria provided, single submitter not provided

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