Submissions for variant NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)

gnomAD frequency: 0.00034  dbSNP: rs113012271

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203716	SCV000259474	likely benign	Long QT syndrome	2023-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001697238	SCV000732599	likely benign	not provided	2019-07-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002426958	SCV002681036	likely benign	Cardiovascular phenotype	2019-02-19	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.
Fulgent Genetics, Fulgent Genetics	RCV002503801	SCV002810032	likely benign	Long QT syndrome 13; Familial hyperaldosteronism type III	2022-04-14	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001697238	SCV005211315	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004757169	SCV005350330	likely benign	KCNJ5-related disorder	2024-09-04	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).