Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000987621 | SCV001100960 | likely benign | Treacher Collins syndrome 1 | 2023-11-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000987621 | SCV001137009 | likely benign | Treacher Collins syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000954332 | SCV001146128 | likely benign | not provided | 2019-07-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000954332 | SCV002031202 | likely benign | not provided | 2021-06-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 27535533) |