ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2880T>C (p.Asn960=)

dbSNP: rs151177516
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Total submissions: 3
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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 RCV000155408 SCV000205095 likely benign not specified 2012-05-07 criteria provided, single submitter clinical testing p.Asn960Asn in Exon 14 of USH2A: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 1/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs151177516).
CeGaT Center for Human Genetics Tuebingen RCV000487969 SCV000574826 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing USH2A: PM2:Supporting, BP4
Invitae RCV000487969 SCV001632167 likely benign not provided 2023-11-27 criteria provided, single submitter clinical testing

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