Submissions for variant NM_000238.4(KCNH2):c.1539C>T (p.Phe513=)

gnomAD frequency: 0.25427  dbSNP: rs1805120

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001841530	SCV000052755	benign	Cardiac arrhythmia	2011-08-18	criteria provided, single submitter	clinical testing	Converted during submission to Benign.
PreventionGenetics, part of Exact Sciences	RCV000252003	SCV000303111	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000242595	SCV000317509	benign	Cardiovascular phenotype	2015-03-09	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Illumina Laboratory Services, Illumina	RCV001095170	SCV000467523	benign	Long QT syndrome 2	2018-01-13	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000252003	SCV000711390	benign	not specified	2016-12-27	criteria provided, single submitter	clinical testing	Phe513Phe in exon 6 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 25.2% (1110/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1805120).
Color Diagnostics, LLC DBA Color Health	RCV001841530	SCV000910514	benign	Cardiac arrhythmia	2018-03-16	criteria provided, single submitter	clinical testing
Invitae	RCV000290606	SCV001000276	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000252003	SCV001433180	benign	not specified	2019-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001711088	SCV001942799	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001095170	SCV001980882	benign	Long QT syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000252003	SCV001922174	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252003	SCV001958119	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000290606	SCV003803661	benign	Long QT syndrome	2022-09-23	no assertion criteria provided	clinical testing