ClinVar Miner

Submissions for variant NM_001366385.1(CARD14):c.2808-19C>A

dbSNP: rs111745899
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522262 SCV001731776 benign Pityriasis rubra pilaris; Psoriasis 2 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001685415 SCV001898182 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV003326152 SCV004032438 uncertain significance Pityriasis rubra pilaris criteria provided, single submitter clinical testing CARD14 is a scaffold protein that mediates NF-κB signal transduction in skin keratinocytes. Potent mutations in Card14 have been shown to be associated with familial pustular psoriasis and other cutaneous inflammatory conditions like Pytriasis rubra pilaris. However, the role of rs111745899 is yet to be ascertained.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003399316 SCV004102531 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 22% of patients studied by a panel of primary immunodeficiencies. Number of patients: 21. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001685415 SCV005248834 benign not provided criteria provided, single submitter not provided

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