Submissions for variant NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)

gnomAD frequency: 0.00262  dbSNP: rs374664760

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000312001	SCV000335674	benign	not specified	2015-09-28	criteria provided, single submitter	clinical testing
GeneDx	RCV001718575	SCV000525242	benign	not provided	2019-08-30	criteria provided, single submitter	clinical testing
Invitae	RCV000560013	SCV000656727	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314004	SCV000849031	benign	Inborn genetic diseases	2017-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc	RCV000312001	SCV001475637	benign	not specified	2020-05-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001718575	SCV004140222	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2, PP3, BS1