Submissions for variant NM_206933.4(USH2A):c.11928G>A (p.Thr3976=)

gnomAD frequency: 0.01005  dbSNP: rs55961436

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041708	SCV000065404	benign	not specified	2010-07-02	criteria provided, single submitter	clinical testing
Molecular Genetics Laboratory; Baylor College of Medicine	RCV000119822	SCV000154748	unknown	Usher syndrome type 2A		criteria provided, single submitter	not provided	Converted during submission to Uncertain significance.
Eurofins Ntd Llc (ga)	RCV000041708	SCV000231871	benign	not specified	2014-11-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000041708	SCV000515236	benign	not specified	2015-04-17	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000955280	SCV001101977	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000955280	SCV002544362	benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000955280	SCV003800019	benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887885	SCV004707856	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV000119822	SCV001459519	benign	Usher syndrome type 2A	2019-12-30	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041708	SCV001953697	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000955280	SCV001966344	likely benign	not provided		no assertion criteria provided	clinical testing