Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000041949 | SCV000065645 | benign | not specified | 2009-06-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000041949 | SCV000169754 | benign | not specified | 2014-05-06 | 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. |
Preventiongenetics, |
RCV000041949 | SCV000317216 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000087015 | SCV001722031 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001273704 | SCV001750314 | benign | Usher syndrome type 2A | 2021-07-01 | criteria provided, single submitter | clinical testing | |
NEI Ophthalmic Genomics Laboratory, |
RCV000087015 | SCV000119268 | not provided | not provided | no assertion provided | not provided | ||
Natera, |
RCV001273704 | SCV001457074 | benign | Usher syndrome type 2A | 2020-09-16 | no assertion criteria provided | clinical testing |