Submissions for variant NM_001148.6(ANK2):c.5469C>T (p.Pro1823=)

gnomAD frequency: 0.07670  dbSNP: rs33966911

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246784	SCV000306894	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000246890	SCV000317553	benign	Cardiovascular phenotype	2015-06-12	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina	RCV000613850	SCV000447186	benign	Cardiac arrhythmia, ankyrin-B-related	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000315771	SCV000999995	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001711678	SCV001944514	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000613850	SCV002525048	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613850	SCV000734304	benign	Cardiac arrhythmia, ankyrin-B-related		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000246784	SCV001923379	benign	not specified		no assertion criteria provided	clinical testing