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

dbSNP: rs764399373

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001722404	SCV000571399	likely benign	not provided	2021-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000552759	SCV000656741	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000483156	SCV001880074	likely benign	not specified	2021-05-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001722404	SCV001961782	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CACNA1A: BP3
Ambry Genetics	RCV002438177	SCV002751218	likely benign	Inborn genetic diseases	2022-09-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
PreventionGenetics, part of Exact Sciences	RCV003985365	SCV004731422	likely benign	CACNA1A-related disorder	2023-05-21	no assertion criteria provided	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).