Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000876419 | SCV001018988 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-08-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV001664519 | SCV001880826 | likely benign | not specified | 2021-06-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002064852 | SCV002497469 | likely benign | not provided | 2022-03-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4, BP7 |