Submissions for variant NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)

gnomAD frequency: 0.00018  dbSNP: rs199473443

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000454712	SCV000539464	uncertain significance	not specified	2016-10-13	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Variant not reported in ExAC but has been reported in 1 affected individual (LQTS). In ClinVar without clinical assertion - 2 submitters (no stars).
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	RCV000495985	SCV000584098	uncertain significance	Long QT syndrome 1	2021-09-02	criteria provided, single submitter	research
Invitae	RCV001305107	SCV001494421	benign	Long QT syndrome	2023-11-02	criteria provided, single submitter	clinical testing
AiLife Diagnostics, AiLife Diagnostics	RCV002223779	SCV002501935	uncertain significance	not provided	2021-08-25	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002483050	SCV002779824	uncertain significance	Atrial fibrillation, familial, 3; Beckwith-Wiedemann syndrome; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2	2021-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002223779	SCV004702757	uncertain significance	not provided	2024-01-01	criteria provided, single submitter	clinical testing	KCNQ1: PS4:Moderate, PM2:Supporting, PP2, PP3
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000057653	SCV000089172	not provided	Congenital long QT syndrome		no assertion provided	literature only	This variant has been reported as associated with Long QT syndrome in the following publications (PMID:18452873;PMID:19716085;PMID:19862833). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.