Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000604500 | SCV000716335 | likely benign | not specified | 2017-02-28 | 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 | RCV000863501 | SCV001004175 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000604500 | SCV002066220 | likely benign | not specified | 2017-07-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002263823 | SCV002546148 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | OFD1: BP4, BP7 |