Submissions for variant NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)

gnomAD frequency: 0.00012  dbSNP: rs373192655

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000435013	SCV000528885	benign	not provided	2020-03-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086705	SCV000656794	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002365535	SCV002663381	benign	Inborn genetic diseases	2018-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CeGaT Center for Human Genetics Tuebingen	RCV000435013	SCV004011029	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1A: BS1
Breakthrough Genomics, Breakthrough Genomics	RCV000435013	SCV005209526	likely benign	not provided		criteria provided, single submitter	not provided