Submissions for variant NM_206933.4(USH2A):c.7584C>T (p.Thr2528=)

gnomAD frequency: 0.00976  dbSNP: rs78250390

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041911	SCV000065607	benign	not specified	2012-02-20	criteria provided, single submitter	clinical testing	Thr2528Thr in exon 40 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 3.2% (119/3738) of A frican American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS/; dbSNP rs78250390).
PreventionGenetics, part of Exact Sciences	RCV000041911	SCV000317212	benign	not specified		criteria provided, single submitter	clinical testing
GeneDx	RCV000041911	SCV000730473	benign	not specified	2017-03-27	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.
Invitae	RCV000087014	SCV001029862	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450889	SCV004183231	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450888	SCV004183232	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000087014	SCV000119267	not provided	not provided		no assertion provided	not provided