Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041301 | SCV000064992 | likely benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | 760-4C>T in Intron 09 of USH1C: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce and has been identified in 2/7020 European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS). |
Invitae | RCV000881764 | SCV001024957 | likely benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |