Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041281 | SCV000064972 | benign | not specified | 2012-05-15 | criteria provided, single submitter | clinical testing | Gly830Arg in Exon 24 of USH1C: This variant is not expected to have clinical sig nificance because it has been identified in 1.3% (47/3738) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs142751309). |
Invitae | RCV000969058 | SCV001116549 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000969058 | SCV001768051 | likely benign | not provided | 2021-03-19 | criteria provided, single submitter | clinical testing |