Submissions for variant NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu)

dbSNP: rs144285237

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084652	SCV000629250	benign	Pityriasis rubra pilaris; Psoriasis 2	2024-01-31	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262615	SCV002543299	likely benign	Autoinflammatory syndrome	2021-03-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000059697	SCV004146307	benign	not provided	2022-07-01	criteria provided, single submitter	clinical testing	CARD14: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003915027	SCV004736327	benign	CARD14-related disorder	2020-04-16	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
UniProtKB/Swiss-Prot	RCV000059697	SCV000091267	not provided	not provided		no assertion provided	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000059697	SCV001798978	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000059697	SCV001931872	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000059697	SCV001970090	likely benign	not provided		no assertion criteria provided	clinical testing