Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000953042 | SCV001099589 | benign | not provided | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000953042 | SCV002013203 | likely benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000953042 | SCV002498274 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CNTNAP1: BP4, BP7, BS2 |
Fulgent Genetics, |
RCV002502947 | SCV002804177 | likely benign | Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3 | 2022-04-04 | criteria provided, single submitter | clinical testing |