Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000418350 | SCV000529218 | likely benign | not specified | 2018-01-29 | 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 | RCV000641021 | SCV000762631 | likely benign | Anauxetic dysplasia | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001828423 | SCV002075588 | likely benign | Metaphyseal chondrodysplasia, McKusick type | 2020-10-12 | no assertion criteria provided | clinical testing |