Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155313 | SCV000204999 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | 2184+10T>C in Intron 20 of USH1C: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 0.3% (10/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.was hington.edu/EVS). |
Invitae | RCV000943311 | SCV001089256 | benign | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000155313 | SCV001925191 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000943311 | SCV001969808 | likely benign | not provided | no assertion criteria provided | clinical testing |