Submissions for variant NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg)

gnomAD frequency: 0.01986  dbSNP: rs34270799

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171795	SCV000050803	benign	not specified	2013-06-24	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV000171795	SCV000306900	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000243731	SCV000318497	benign	Cardiovascular phenotype	2015-07-27	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	RCV000625129	SCV000447220	benign	Cardiac arrhythmia, ankyrin-B-related	2018-01-12	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	RCV000311991	SCV000557180	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625129	SCV000743829	likely benign	Cardiac arrhythmia, ankyrin-B-related	2014-10-09	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001706113	SCV001157080	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001706113	SCV001848611	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000625129	SCV002525084	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000171795	SCV001921740	benign	not specified		no assertion criteria provided	clinical testing