Submissions for variant NM_206933.4(USH2A):c.14960C>T (p.Ala4987Val)

gnomAD frequency: 0.00214  dbSNP: rs111033498

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041774	SCV000065470	benign	not specified	2011-04-05	criteria provided, single submitter	clinical testing	Ala4987Val in exon 68 of USH2A: This variant is not expected to have clinical si gnificance because this residue is not highly conserved across species. Of note, chicken and frog have an aspartic acid at this position. In addition, the varia nt has been identified by our laboratory in 5/223 (2.3%) probands including 3/31 (9.7%) Hispanic probands.
Eurofins Ntd Llc (ga)	RCV000041774	SCV000114879	benign	not specified	2015-01-12	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000755428	SCV000605547	benign	not provided	2023-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000755428	SCV001096946	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000755428	SCV001861671	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450806	SCV004182340	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450805	SCV004182351	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887901	SCV004707193	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Breakthrough Genomics, Breakthrough Genomics	RCV000755428	SCV005287593	benign	not provided		criteria provided, single submitter	not provided