Submissions for variant NM_000890.5(KCNJ5):c.366C>T (p.Gly122=)

gnomAD frequency: 0.00004  dbSNP: rs375205252

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001667404	SCV001889024	likely benign	not provided	2018-10-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002538591	SCV003274921	likely benign	Long QT syndrome	2022-11-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004039937	SCV005036613	likely benign	Cardiovascular phenotype	2023-03-03	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	RCV003900842	SCV004714203	likely benign	KCNJ5-related disorder	2022-04-05	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).