Submissions for variant NM_001148.6(ANK2):c.1773T>C (p.Ser591=)

gnomAD frequency: 0.00004  dbSNP: rs374775005

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000170649	SCV000223201	benign	not specified	2014-06-30	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000549115	SCV000627627	likely benign	Long QT syndrome	2022-12-18	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726588	SCV000701672	uncertain significance	not provided	2016-10-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408734	SCV002716871	likely benign	Cardiovascular phenotype	2021-01-21	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV000726588	SCV004148719	likely benign	not provided	2022-09-01	criteria provided, single submitter	clinical testing	ANK2: BP4, BP7