ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) (rs696723)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041807 SCV000065503 benign not specified 2008-02-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041807 SCV000225727 benign not specified 2014-06-18 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000041807 SCV000317199 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,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 Clinical Services Laboratory,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 RCV000041807 SCV000605537 benign not specified 2018-08-01 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
NEI Ophthalmic Genomics Laboratory,National Institutes of Health RCV000087010 SCV000119263 not provided not provided no assertion provided not provided

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