Submissions for variant NM_206933.4(USH2A):c.14454G>A (p.Pro4818=)

gnomAD frequency: 0.00293  dbSNP: rs137902779

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154585	SCV000204258	benign	not specified	2010-07-26	criteria provided, single submitter	clinical testing	p.Pro4818Pro in Exon 66 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 1.1% (42/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs137902779).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000154585	SCV000884853	benign	not specified	2019-03-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756885	SCV001038579	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000756885	SCV001816776	likely benign	not provided	2020-10-29	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453161	SCV004183063	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001826831	SCV004183064	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000756885	SCV002034433	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000154585	SCV002037920	benign	not specified		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001826831	SCV002088220	likely benign	Usher syndrome type 2A	2019-12-09	no assertion criteria provided	clinical testing