Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877133 | SCV001019818 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990090 | SCV001140883 | likely benign | Schinzel-Giedion syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000877133 | SCV001947283 | benign | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23222956) |
Ce |
RCV000877133 | SCV004143027 | benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | SETBP1: BP4, BS1, BS2 |