ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.6186A>C (p.Pro2062=)

gnomAD frequency: 0.00016  dbSNP: rs200247886
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214074 SCV000269948 benign not specified 2016-04-07 criteria provided, single submitter clinical testing p.Pro2062Pro in exon 32 of USH2A: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.6% (98/16508) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs200247886).
Labcorp Genetics (formerly Invitae), Labcorp RCV000906976 SCV001051647 benign not provided 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV000906976 SCV001832165 benign not provided 2019-01-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20507924)
Genome-Nilou Lab RCV003454565 SCV004181693 benign Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003454564 SCV004181694 benign Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000906976 SCV001919945 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000906976 SCV001970803 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.