Submissions for variant NM_206933.4(USH2A):c.6325+13G>A

gnomAD frequency: 0.00021  dbSNP: rs368490585

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000216609	SCV000271171	likely benign	not specified	2015-05-28	criteria provided, single submitter	clinical testing	c.6325+13G>A in Intron 32 of USH2A: This variant is not expected to have clinica l significance because it is not located within the conserved splice consensus s equence. This variant has been identified in 35/66520 European chromosomes by t he Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs3 68490585).
GeneDx	RCV000216609	SCV000730472	likely benign	not specified	2018-01-18	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001487638	SCV001692133	likely benign	not provided	2025-01-13	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445709	SCV004172103	likely benign	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445708	SCV004172104	likely benign	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001487638	SCV005263700	likely benign	not provided		criteria provided, single submitter	not provided