Submissions for variant NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)

gnomAD frequency: 0.67380  dbSNP: rs16051

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079479	SCV000111358	benign	not specified	2018-03-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079479	SCV000306700	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000540374	SCV000656800	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311577	SCV000845840	benign	Inborn genetic diseases	2016-01-08	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.
GeneDx	RCV001527803	SCV001738940	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554760	SCV001776066	benign	Developmental and epileptic encephalopathy, 42	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554761	SCV001776067	benign	Episodic ataxia type 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554762	SCV001776068	benign	Migraine, familial hemiplegic, 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554763	SCV001776069	benign	Spinocerebellar ataxia type 6	2021-07-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490692	SCV002802599	likely benign	Episodic ataxia type 2; Spinocerebellar ataxia type 6; Migraine, familial hemiplegic, 1; Developmental and epileptic encephalopathy, 42	2022-04-08	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000079479	SCV005087646	benign	not specified	2024-07-15	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 47% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 44. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001527803	SCV005314806	benign	not provided		criteria provided, single submitter	not provided
Genetic Services Laboratory, University of Chicago	RCV000079479	SCV000150483	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000079479	SCV001740276	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000079479	SCV001930115	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000079479	SCV001955784	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000079479	SCV001973643	benign	not specified		no assertion criteria provided	clinical testing