Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250163 | SCV000315684 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000250163 | SCV000718308 | likely benign | not specified | 2017-12-29 | 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. |
Genome- |
RCV001807201 | SCV002055924 | benign | Cornelia de Lange syndrome 1 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001807201 | SCV003783160 | benign | Cornelia de Lange syndrome 1 | 2024-01-16 | criteria provided, single submitter | clinical testing |