Submissions for variant NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)

gnomAD frequency: 0.00065  dbSNP: rs149645600

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227317	SCV000286252	likely benign	Long QT syndrome	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000251053	SCV000318238	likely benign	Cardiovascular phenotype	2018-11-13	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	RCV001699212	SCV000728901	likely benign	not provided	2021-04-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625124	SCV000743824	likely benign	Cardiac arrhythmia, ankyrin-B-related	2016-06-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625124	SCV001308273	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001699212	SCV002048158	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing
Dept of Medical Biology, Uskudar University	RCV000227317	SCV004021960	uncertain significance	Long QT syndrome	2024-01-08	criteria provided, single submitter	research	Criteria: BS1
Blueprint Genetics	RCV000157109	SCV000206832	uncertain significance	Cardiac arrest	2014-03-13	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV001699212	SCV001923989	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001699212	SCV001959009	likely benign	not provided		no assertion criteria provided	clinical testing