Submissions for variant NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)

gnomAD frequency: 0.00030  dbSNP: rs16010

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000347408	SCV000334332	benign	not specified	2015-08-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001711852	SCV000523366	benign	not provided	2019-09-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534837	SCV000656714	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317804	SCV000850262	likely benign	Inborn genetic diseases	2016-04-05	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.
Athena Diagnostics	RCV000347408	SCV001879643	benign	not specified	2020-11-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001711852	SCV004140230	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BS1
Breakthrough Genomics, Breakthrough Genomics	RCV001711852	SCV005209549	likely benign	not provided		criteria provided, single submitter	not provided