Submissions for variant NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=)

gnomAD frequency: 0.00026  dbSNP: rs141325005

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000840243	SCV000982165	likely benign	not provided	2021-06-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001493378	SCV001698003	likely benign	Long QT syndrome	2023-12-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002352486	SCV002620664	likely benign	Cardiovascular phenotype	2020-03-10	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.
PreventionGenetics, part of Exact Sciences	RCV003928311	SCV004741286	likely benign	KCNJ5-related disorder	2019-09-10	no assertion criteria provided	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).