Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |
Ce |
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 |