Submissions for variant NM_206933.4(USH2A):c.4252-36CTTT[5]

dbSNP: rs372388546

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155428	SCV000205118	benign	not specified	2015-05-17	criteria provided, single submitter	clinical testing	4252-16_4252-13delCTTT in Intron 19 of USH2A: This variant is not expected to h ave clinical significance because it does not alter the splice consensus sequenc e and it has been identified in 10.9% (466/4264) African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
PreventionGenetics, part of Exact Sciences	RCV000155428	SCV000317203	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000399208	SCV000354111	likely benign	Retinitis Pigmentosa, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000304777	SCV000354112	likely benign	Retinitis pigmentosa-deafness syndrome	2016-06-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000155428	SCV000730468	benign	not specified	2018-03-01	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	RCV001519720	SCV001728640	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445589	SCV004172147	likely benign	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003445588	SCV004172148	likely benign	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing