Submissions for variant NM_001148.6(ANK2):c.3963T>C (p.Ile1321=)

gnomAD frequency: 0.00020  dbSNP: rs72901936

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000123641	SCV000166980	benign	not specified	2013-01-26	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	RCV000631745	SCV000752835	benign	Long QT syndrome	2024-10-29	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811986	SCV002050053	likely benign	not provided	2021-11-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002253231	SCV002525037	benign	Cardiac arrhythmia, ankyrin-B-related	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002354310	SCV002621093	likely benign	Cardiovascular phenotype	2018-12-05	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.
CeGaT Center for Human Genetics Tuebingen	RCV001811986	SCV004701233	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	ANK2: BP4, BP7