Submissions for variant NM_206933.4(USH2A):c.5993G>A (p.Arg1998His)

gnomAD frequency: 0.00217  dbSNP: rs143624066

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041874	SCV000065570	benign	not specified	2012-01-11	criteria provided, single submitter	clinical testing	This variant is not expected to have clinical significance because it has been i dentified in 23/4552 (0.5%) control chromosomes from a broad, though clinically and racially unspecified population (dbSNP rs41311625) and the variant occurs at an amino acid position that is poorly conserved with His present in dog and hor se.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000756881	SCV000884845	benign	not provided	2023-11-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756881	SCV001112093	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000756881	SCV001882928	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450861	SCV004181733	benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450860	SCV004181734	benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003888401	SCV004707972	likely benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Clinical Genetics, Academic Medical Center	RCV000041874	SCV001926139	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000041874	SCV001970599	benign	not specified		no assertion criteria provided	clinical testing