Submissions for variant NM_206933.4(USH2A):c.14517G>A (p.Thr4839=)

gnomAD frequency: 0.00014  dbSNP: rs397517991

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041764	SCV000065460	likely benign	not specified	2015-12-31	criteria provided, single submitter	clinical testing	p.Thr4839Thr in exon 66 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.2% (22/11576) of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs397517991).
GeneDx	RCV000041764	SCV000169772	benign	not specified	2012-04-26	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)	RCV000732156	SCV000860068	uncertain significance	not provided	2018-03-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000732156	SCV001050856	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041764	SCV002599048	likely benign	not specified	2022-09-21	criteria provided, single submitter	clinical testing