Submissions for variant NM_000890.5(KCNJ5):c.937+7C>T

gnomAD frequency: 0.06448  dbSNP: rs45516097

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000126425	SCV000169932	benign	not specified	2014-01-16	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.
PreventionGenetics, part of Exact Sciences	RCV000126425	SCV000305568	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000340520	SCV000368943	benign	Familial hyperaldosteronism type III	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000401026	SCV000368944	benign	Congenital long QT syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000473950	SCV000554453	benign	Long QT syndrome	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000126425	SCV003929078	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000126425	SCV001923641	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000126425	SCV001959715	benign	not specified		no assertion criteria provided	clinical testing