Submissions for variant NM_001127222.2(CACNA1A):c.2173-12C>T

gnomAD frequency: 0.66161  dbSNP: rs16018

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000254266	SCV000306692	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000254266	SCV000519202	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001511464	SCV001718713	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554764	SCV001776070	benign	Developmental and epileptic encephalopathy, 42	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554765	SCV001776071	benign	Episodic ataxia type 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554766	SCV001776072	benign	Migraine, familial hemiplegic, 1	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001554767	SCV001776073	benign	Spinocerebellar ataxia type 6	2021-07-14	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000254266	SCV005087814	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 98% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 91. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV004717106	SCV005315295	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000254266	SCV001743871	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000254266	SCV001932503	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000254266	SCV001958767	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000254266	SCV001967899	benign	not specified		no assertion criteria provided	clinical testing