Submissions for variant NM_206933.4(USH2A):c.4983T>C (p.Asp1661=)

gnomAD frequency: 0.00002  dbSNP: rs111033532

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041850	SCV000065546	likely benign	not specified	2015-06-08	criteria provided, single submitter	clinical testing	p.Asp1661Asp in exon 24 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1/9750 African c hromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute .org; dbSNP rs111033532).
Counsyl	RCV000669761	SCV000794544	likely benign	Usher syndrome type 2A; Retinitis pigmentosa 39	2017-09-28	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001447529	SCV001650594	likely benign	not provided	2024-08-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001447529	SCV004125619	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	USH2A: BP4, BP7
Genome-Nilou Lab	RCV003450848	SCV004181863	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450847	SCV004181864	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing