Submissions for variant NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu)

gnomAD frequency: 0.00170  dbSNP: rs145895389

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000171746	SCV000050749	likely benign	not provided	2013-06-24	criteria provided, single submitter	research
Invitae	RCV001085869	SCV000286263	benign	Long QT syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000250647	SCV000319045	likely benign	Cardiovascular phenotype	2023-11-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000171746	SCV000515990	likely benign	not provided	2021-06-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625126	SCV000743826	likely benign	Cardiac arrhythmia, ankyrin-B-related	2014-10-09	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625126	SCV001306325	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV000625126	SCV002525073	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000438767	SCV002600825	likely benign	not specified	2022-10-30	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000171746	SCV004148754	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	ANK2: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003937539	SCV004748211	likely benign	ANK2-related disorder	2019-06-07	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).
Clinical Genetics, Academic Medical Center	RCV000438767	SCV001924313	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000438767	SCV001953036	benign	not specified		no assertion criteria provided	clinical testing