Submissions for variant NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])

dbSNP: rs764399373

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000710943	SCV000226885	uncertain significance	not provided	2014-10-23	criteria provided, single submitter	clinical testing
GeneDx	RCV000710943	SCV000570760	benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710943	SCV000841256	benign	not provided	2018-05-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002318576	SCV000849527	benign	Inborn genetic diseases	2019-04-03	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.
Invitae	RCV001084910	SCV001106310	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-22	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001336211	SCV001529547	uncertain significance	Developmental and epileptic encephalopathy, 42	2018-05-08	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen	RCV000710943	SCV004138007	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	CACNA1A: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003985359	SCV004777885	likely benign	CACNA1A-related disorder	2021-06-14	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).