Submissions for variant NM_206933.4(USH2A):c.11549-5del

dbSNP: rs34565443

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154396	SCV000204063	benign	not specified	2014-02-01	criteria provided, single submitter	clinical testing	11549-5delT in intron 59 of USH2A: This variant is not expected to have clinica l significance because it has been identified in 2.0% (166/8241) of European Am erican chromosomes by the NHLBI Exome Sequencing Project, it occurs within a pol y-T tract, and is not predicted to impact splicing (http://evs.gs.washington.edu /EVS/; dbSNP rs34565443).
Eurofins Ntd Llc (ga)	RCV000154396	SCV000231854	benign	not specified	2014-08-29	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001522859	SCV001732481	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001522859	SCV001855961	benign	not provided	2019-08-18	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31054281)
Genome-Nilou Lab	RCV003445583	SCV004173929	benign	Retinitis pigmentosa 39	2023-04-11	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001271135	SCV004173930	benign	Usher syndrome type 2A	2023-04-11	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271135	SCV001451987	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing