Submissions for variant NM_001127222.2(CACNA1A):c.6937CAG[14] (p.Gln2325dup)

dbSNP: rs16054

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224151	SCV000281309	benign	not provided	2015-10-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001476380	SCV001680588	likely benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000224151	SCV001943537	benign	not provided	2019-08-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002485449	SCV002796565	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2022-04-07	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529075	SCV001741920	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000224151	SCV001797599	likely benign	not provided		no assertion criteria provided	clinical testing