Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041262 | SCV000064953 | benign | not specified | 2012-05-16 | criteria provided, single submitter | clinical testing | Arg636Cys in Exon 18 of USH1C: This variant has been reported in one individual with prelingual severe to profound deafness with no vision abnormalities (Ouyang 2002). However, this variant is not expected to have clinical significance beca use it has been identified in 0.5% (20/3738) of African American chromosomes fro m a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washin gton.edu/EVS; dbSNP rs149510892). In addition, this variant has been identified by our laboratory in a proband who carried two pathogenic variants in another ge ne. |
Eurofins Ntd Llc |
RCV000725958 | SCV000340855 | uncertain significance | not provided | 2016-05-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000725958 | SCV001027288 | benign | not provided | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725958 | SCV001824581 | likely benign | not provided | 2020-07-06 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 12136232, 30245029) |