Submissions for variant NM_206933.4(USH2A):c.11907A>T (p.Pro3969=)

gnomAD frequency: 0.04389  dbSNP: rs61635304

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041706	SCV000065402	benign	not specified	2009-11-24	criteria provided, single submitter	clinical testing
GeneDx	RCV000041706	SCV000169764	benign	not specified	2011-08-12	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.
PreventionGenetics, part of Exact Sciences	RCV000041706	SCV000317190	benign	not specified		criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000714157	SCV000844840	benign	not provided	2018-05-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000714157	SCV001156874	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000714157	SCV001725647	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450755	SCV004182059	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271130	SCV004182060	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000714157	SCV005287614	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001271130	SCV001451981	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing