Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197248 | SCV001367885 | uncertain significance | Usher syndrome type 1D | 2019-05-04 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3. |
Invitae | RCV001242143 | SCV001415211 | likely benign | not provided | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833765 | SCV002082547 | uncertain significance | Usher syndrome type 1F | 2020-04-13 | no assertion criteria provided | clinical testing |