Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000883516 | SCV001026828 | likely benign | not provided | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV001195474 | SCV001365851 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Gln462Gln in Exon 16 of USH1C: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.1% (4/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs141564204). |
Gene |
RCV000883516 | SCV001768186 | likely benign | not provided | 2020-01-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955865 | SCV004781596 | likely benign | USH1C-related condition | 2019-08-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |