Submissions for variant NM_206933.4(USH2A):c.6279T>C (p.Asp2093=)

gnomAD frequency: 0.00006  dbSNP: rs200876799

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000825850	SCV000967334	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Asp2093Asp in Exon 32 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1/7020 European Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000977411	SCV001125327	likely benign	not provided	2024-12-02	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453751	SCV004181679	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003453750	SCV004181680	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000977411	SCV005263701	likely benign	not provided		criteria provided, single submitter	not provided
CeGaT Center for Human Genetics Tuebingen	RCV000977411	SCV005330890	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing	USH2A: BP4