Submissions for variant NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)

gnomAD frequency: 0.06184  dbSNP: rs696723

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000041807	SCV000065503	benign	not specified	2008-02-19	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000041807	SCV000225727	benign	not specified	2014-06-18	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000041807	SCV000317199	benign	not specified	2016-02-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000298396	SCV000354149	likely benign	Retinitis pigmentosa	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000677329	SCV000354150	likely benign	Usher syndrome type 2A	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000087010	SCV000605537	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
SIB Swiss Institute of Bioinformatics	RCV000677329	SCV000803564	benign	Usher syndrome type 2A	2018-05-31	criteria provided, single submitter	curation	This variant is interpreted as a Benign - Stand Alone, for Usher syndrome 2A (autosomal recessive, mild), in Autosomal Recessive manner. The following ACMG Tag(s) were applied: BS4 => Lack of segregation in affected members of a family (PMID:15325563). BA1 => Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. BS1 => Allele frequency is greater than expected for disorder. BS2 => Observed in a healthy adult individual for a recessive (homozygous), dominant (heterozygous), or X-linked (hemizygous) disorder, with full penetrance expected at an early age.
Athena Diagnostics Inc	RCV000087010	SCV001146608	benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing
Invitae	RCV000087010	SCV001729484	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000087010	SCV001863371	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30245029, 15325563, 15241801, 22952768, 27884173, 10909849, 21228398, 22004887, 20981092, 21738395, 14676276, 22025579, 12112664, 25262649)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000041807	SCV002051061	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV003450830	SCV004182457	likely benign	Retinitis pigmentosa 39	2023-11-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000677329	SCV004182458	likely benign	Usher syndrome type 2A	2023-11-04	criteria provided, single submitter	clinical testing
NEI Ophthalmic Genomics Laboratory, National Institutes of Health	RCV000087010	SCV000119263	not provided	not provided		no assertion provided	not provided
Natera, Inc.	RCV000677329	SCV001452248	benign	Usher syndrome type 2A	2020-09-16	no assertion criteria provided	clinical testing