Submissions for variant NM_206933.4(USH2A):c.9459C>T (p.Cys3153=)

gnomAD frequency: 0.00422  dbSNP: rs73090721

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155400	SCV000205087	benign	not specified	2012-05-07	criteria provided, single submitter	clinical testing	"Cys3153Cys in Exon 48 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1.6% (59/3738) of A frican American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs73090721)."
GeneDx	RCV000965589	SCV000515235	benign	not provided	2019-05-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000965589	SCV001112859	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505172	SCV002805370	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2022-05-20	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000965589	SCV004125604	likely benign	not provided	2022-12-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Genome-Nilou Lab	RCV003453173	SCV004182687	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001831965	SCV004182688	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000965589	SCV005287641	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001831965	SCV002088401	benign	Usher syndrome type 2A	2019-12-10	no assertion criteria provided	clinical testing