Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426896 | SCV000517165 | benign | not specified | 2017-01-17 | 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 | RCV000538712 | SCV000656448 | benign | Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000426896 | SCV002070882 | benign | not specified | 2018-02-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003418114 | SCV004143958 | benign | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | IFT172: BP4, BS1, BS2 |