Submissions for variant NM_206933.4(USH2A):c.373G>A (p.Ala125Thr)

gnomAD frequency: 0.73169  dbSNP: rs10779261

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041833	SCV000065529	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000041833	SCV000169735	benign	not specified	2015-03-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000041833	SCV000227596	benign	not specified	2014-09-03	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041833	SCV000317201	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000291734	SCV000354186	benign	Usher syndrome type 2A	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV000344307	SCV000354187	benign	Retinitis pigmentosa	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001515004	SCV000884840	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Invitae	RCV001515004	SCV001722985	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000291734	SCV001750427	benign	Usher syndrome type 2A	2021-07-01	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041833	SCV003928767	benign	not specified	2023-04-10	criteria provided, single submitter	clinical testing
Dept Of Ophthalmology, Nagoya University	RCV003887906	SCV004708086	benign	Retinal dystrophy	2023-10-01	criteria provided, single submitter	research
Natera, Inc.	RCV000291734	SCV001457333	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000041833	SCV001743968	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000041833	SCV001957202	benign	not specified		no assertion criteria provided	clinical testing