Submissions for variant NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)

gnomAD frequency: 0.00012  dbSNP: rs201236364

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000415907	SCV000340286	uncertain significance	not provided	2016-03-16	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415907	SCV000493167	likely benign	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087304	SCV000656758	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000415907	SCV000732190	likely benign	not provided	2021-06-14	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000351406	SCV001880105	benign	not specified	2021-02-04	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000351406	SCV002065557	likely benign	not specified	2017-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002450820	SCV002615658	likely benign	Inborn genetic diseases	2019-05-26	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000415907	SCV001931746	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000415907	SCV001951416	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003985316	SCV004773994	likely benign	CACNA1A-related disorder	2019-07-12	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).