Submissions for variant NM_001148.6(ANK2):c.130C>G (p.Leu44Val)

gnomAD frequency: 0.00051  dbSNP: rs145272651

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000250584	SCV000320044	benign	Cardiovascular phenotype	2022-10-24	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
GeneDx	RCV000865942	SCV000512026	likely benign	not provided	2020-09-11	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23631430)
Invitae	RCV001433540	SCV001636331	likely benign	Long QT syndrome	2020-11-11	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955405	SCV004779806	likely benign	ANK2-related condition	2022-09-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).