Submissions for variant NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)

gnomAD frequency: 0.00022  dbSNP: rs374307014

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726034	SCV000341364	uncertain significance	not provided	2016-06-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000726034	SCV000534486	likely benign	not provided	2020-10-08	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000290103	SCV000612507	benign	not specified	2017-02-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086862	SCV000656711	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002317818	SCV000851370	likely benign	Inborn genetic diseases	2016-12-15	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.
CeGaT Center for Human Genetics Tuebingen	RCV000726034	SCV000892554	likely benign	not provided	2023-02-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BP7