Submissions for variant NM_001148.6(ANK2):c.2265C>T (p.Asn755=)

gnomAD frequency: 0.00004  dbSNP: rs765273107

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439796	SCV000526272	likely benign	not specified	2016-03-28	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001459439	SCV001663278	likely benign	Long QT syndrome	2022-10-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002446698	SCV002733419	likely benign	Cardiovascular phenotype	2019-08-19	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.
Clinical Genetics, Academic Medical Center	RCV000439796	SCV001926173	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723998	SCV001954472	likely benign	not provided		no assertion criteria provided	clinical testing