Submissions for variant NM_206933.4(USH2A):c.11677C>A (p.Pro3893Thr)

gnomAD frequency: 0.01316  dbSNP: rs41303285

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041701	SCV000065397	benign	not specified	2009-06-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041701	SCV000169762	benign	not specified	2014-01-30	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.
Eurofins Ntd Llc (ga)	RCV000041701	SCV000707026	benign	not specified	2017-03-21	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000993536	SCV001146595	benign	not provided	2018-09-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000993536	SCV001156940	benign	not provided	2023-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000993536	SCV001719828	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041701	SCV002051056	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000993536	SCV003916552	benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BS1, BS2
Genome-Nilou Lab	RCV003450751	SCV004182089	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271133	SCV004182090	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887884	SCV004707859	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000993536	SCV005261744	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001271133	SCV001451985	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000993536	SCV001744667	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041701	SCV001953630	benign	not specified		no assertion criteria provided	clinical testing