ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8937A>G (p.Val2979=)

gnomAD frequency: 0.00404  dbSNP: rs139100097
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000152591 SCV000201861 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Val2979Val in Exon 45 of USH2A: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.9% (33/3738) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs139100097).
PreventionGenetics, part of Exact Sciences RCV000152591 SCV000317215 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000152591 SCV000339955 benign not specified 2016-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000756883 SCV000714995 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000152591 SCV000884850 benign not specified 2018-08-31 criteria provided, single submitter clinical testing
Invitae RCV000756883 SCV001105409 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453120 SCV004182751 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453119 SCV004182752 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000152591 SCV001920738 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000756883 SCV001975941 likely benign not provided no assertion criteria provided clinical testing

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