Submissions for variant NM_001366385.1(CARD14):c.675+26G>A

gnomAD frequency: 0.77525  dbSNP: rs4889991

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genome-Nilou Lab	RCV001554816	SCV001776122	benign	Pityriasis rubra pilaris	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554817	SCV001776123	benign	Psoriasis 2	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001685528	SCV001898325	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV001554816	SCV004032435	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 rs4889991 is yet to be ascertained.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV003399363	SCV004123017	benign	not specified	2023-11-14	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 89% of patients studied by a panel of primary immunodeficiencies. Number of patients: 85. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001685528	SCV005248782	benign	not provided		criteria provided, single submitter	not provided