Submissions for variant NM_001127222.2(CACNA1A):c.1345+7C>T

gnomAD frequency: 0.00213  dbSNP: rs192536793

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244066	SCV000306687	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000244066	SCV000524725	likely benign	not specified	2018-01-05	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.
Invitae	RCV000546034	SCV000656709	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576692	SCV000677208	benign	Episodic ataxia type 2; Migraine, familial hemiplegic, 1	2017-05-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001726075	SCV002563506	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CACNA1A: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000244066	SCV001927921	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001726075	SCV001964131	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001726075	SCV002036859	likely benign	not provided		no assertion criteria provided	clinical testing