Submissions for variant NM_206933.4(USH2A):c.6347A>G (p.His2116Arg)

gnomAD frequency: 0.00076  dbSNP: rs111033450

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041885	SCV000065581	likely benign	not specified	2011-09-04	criteria provided, single submitter	clinical testing	His2116Arg in exon 33 of USH2A: This variant has not been reported in the litera ture, but has been identified by our laboratory in one family. However, the abse nce of segregation with hearing loss in that family suggests that this variant i s more likely benign. In addition, this variant is not highly conserved across m ammals and has been identified in 0.1% of control chromosomes (rs111033450).
GeneDx	RCV001238986	SCV000583059	likely benign	not provided	2021-04-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20507924)
Blueprint Genetics	RCV001073913	SCV001239478	uncertain significance	Retinal dystrophy	2018-06-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001238986	SCV001411828	benign	not provided	2025-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001238986	SCV002544364	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	USH2A: BP4
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001238986	SCV001951775	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001238986	SCV001974320	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537155	SCV004720218	likely benign	USH2A-related disorder	2020-01-28	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).