Submissions for variant NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)

gnomAD frequency: 0.00057  dbSNP: rs374749004

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000723917	SCV000227641	uncertain significance	not provided	2014-05-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000723917	SCV000532260	benign	not provided	2019-08-19	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000176048	SCV000612528	benign	not specified	2017-04-25	criteria provided, single submitter	clinical testing
Invitae	RCV001080024	SCV001058105	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002453620	SCV002611582	likely benign	Inborn genetic diseases	2019-04-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000723917	SCV004138003	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7, BS1