Submissions for variant NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp)

gnomAD frequency: 0.00018  dbSNP: rs139467141

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000693943	SCV000822367	likely benign	Pityriasis rubra pilaris; Psoriasis 2	2024-01-25	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV001507909	SCV001713749	uncertain significance	not provided	2021-05-07	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002263936	SCV002542453	uncertain significance	Autoinflammatory syndrome	2019-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001507909	SCV004146303	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	CARD14: BP4
PreventionGenetics, part of Exact Sciences	RCV003945716	SCV004760453	likely benign	CARD14-related disorder	2023-02-20	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001507909	SCV001931632	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001507909	SCV001963813	likely benign	not provided		no assertion criteria provided	clinical testing