Submissions for variant NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)

dbSNP: rs200333359

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000494232	SCV000583061	likely benign	not provided	2020-10-13	criteria provided, single submitter	clinical testing	In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics	RCV000764180	SCV000895182	uncertain significance	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2018-10-31	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000494232	SCV001143326	uncertain significance	not provided	2018-12-26	criteria provided, single submitter	clinical testing
Invitae	RCV001212290	SCV001383870	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2023-10-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000494232	SCV002543883	uncertain significance	not provided	2022-05-01	criteria provided, single submitter	clinical testing	CACNA1A: PP2
Revvity Omics, Revvity	RCV000494232	SCV003830267	uncertain significance	not provided	2020-01-14	criteria provided, single submitter	clinical testing