Submissions for variant NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr)

gnomAD frequency: 0.00038  dbSNP: rs3733616

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000474448	SCV000557234	benign	Long QT syndrome	2023-12-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001721514	SCV000728499	likely benign	not provided	2019-06-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25351510)
Ambry Genetics	RCV000620093	SCV000737422	benign	Cardiovascular phenotype	2017-07-10	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.
Illumina Laboratory Services, Illumina	RCV001149937	SCV001310938	likely benign	Cardiac arrhythmia, ankyrin-B-related	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genome-Nilou Lab	RCV001149937	SCV002525063	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001721514	SCV004148748	likely benign	not provided	2022-04-01	criteria provided, single submitter	clinical testing	ANK2: BP4