Submissions for variant NM_206933.4(USH2A):c.6369C>T (p.Cys2123=)

gnomAD frequency: 0.01557  dbSNP: rs111033472

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041886	SCV000065582	benign	not specified	2011-11-03	criteria provided, single submitter	clinical testing	Cys2123Cys in exon 33 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and has been identified in 1.7% (77/4550) of control chromosom es (dbSNP rs111033472).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755430	SCV000605551	benign	not provided	2023-11-08	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755430	SCV001036374	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000755430	SCV001146616	benign	not provided	2018-11-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000755430	SCV001894571	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450875	SCV004181671	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450874	SCV004181672	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000755430	SCV005280580	benign	not provided		criteria provided, single submitter	not provided