Submissions for variant NM_206933.4(USH2A):c.7160T>C (p.Met2387Thr)

gnomAD frequency: 0.00441  dbSNP: rs115015305

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041904	SCV000065600	benign	not specified	2012-04-27	criteria provided, single submitter	clinical testing	Met2387Thr in exon 38 of USH2A: This variant is not expected to have clinical si gnificance because it has been identified in 1.3% (50/3738) of African American chromosomes from a broad population by the NHLBI Exome sequencing project (http: //evs.gs.washington.edu/EVS/; dbSNP rs115015305).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000972668	SCV001120391	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000972668	SCV001844683	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450884	SCV004181551	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001274244	SCV004181552	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274244	SCV001458124	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000041904	SCV001923453	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041904	SCV001972396	benign	not specified		no assertion criteria provided	clinical testing