Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878527 | SCV001021446 | likely benign | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003432862 | SCV004160503 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SYNE1: BP4, BP7 |