Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041275 | SCV000064966 | benign | not specified | 2011-05-04 | criteria provided, single submitter | clinical testing | Ala783Ser in exon 23 of USH1C: This variant is not expected to have clinical sig nificance because it was identified in dbSNP in 2.6% (5/194) control chromosomes (rs34077456). |
Gene |
RCV000041275 | SCV000730466 | benign | not specified | 2017-10-23 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000969059 | SCV001116550 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing |