Submissions for variant NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)

dbSNP: rs768950814

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194930	SCV000246839	uncertain significance	not specified	2014-06-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000194930	SCV000338129	benign	not specified	2018-03-01	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000439187	SCV000511015	likely benign	not provided	2017-02-13	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000553004	SCV000656801	benign	Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42	2024-02-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002314791	SCV000847658	benign	Inborn genetic diseases	2016-07-07	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	RCV000439187	SCV001851450	benign	not provided	2016-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000439187	SCV002822522	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	CACNA1A: PM4:Supporting, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003985299	SCV004739136	likely benign	CACNA1A-related disorder	2019-10-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000439187	SCV001929990	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000194930	SCV001963922	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000194930	SCV002035772	benign	not specified		no assertion criteria provided	clinical testing