Submissions for variant NM_001148.6(ANK2):c.3136C>T (p.Leu1046=)

gnomAD frequency: 0.00005  dbSNP: rs149840991

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000253322	SCV000318130	likely benign	Cardiovascular phenotype	2019-03-05	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	RCV000431637	SCV000512034	benign	not specified	2015-03-19	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	RCV000463319	SCV000557224	likely benign	Long QT syndrome	2024-01-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253333	SCV002525025	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000431637	SCV002034435	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001796733	SCV002037521	likely benign	not provided		no assertion criteria provided	clinical testing