Submissions for variant NM_206933.4(USH2A):c.13134G>T (p.Pro4378=)

gnomAD frequency: 0.00013  dbSNP: rs148975669

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213380	SCV000269945	benign	not specified	2015-07-01	criteria provided, single submitter	clinical testing	Pro4378Pro in Exon 63 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 0.2% (34/16508) of S outh Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs148975669).
GeneDx	RCV000213380	SCV000727310	likely benign	not specified	2018-02-08	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	RCV000943551	SCV001089501	likely benign	not provided	2024-01-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454561	SCV004181902	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454560	SCV004181904	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing