Submissions for variant NM_206933.4(USH2A):c.10518G>A (p.Thr3506=)

gnomAD frequency: 0.00141  dbSNP: rs114719960

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000213978	SCV000271156	likely benign	not specified	2015-07-20	criteria provided, single submitter	clinical testing	p.Thr3506Thr in Exon 53 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.4% (39/10404) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs114719960).
Invitae	RCV000903702	SCV001048182	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000903702	SCV001873709	likely benign	not provided	2021-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003454574	SCV004182550	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001833186	SCV004182551	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001833186	SCV002088356	likely benign	Usher syndrome type 2A	2019-12-08	no assertion criteria provided	clinical testing