Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000862149 | SCV001002610 | benign | Baraitser-Winter syndrome 1 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001644845 | SCV001858040 | benign | not provided | 2020-01-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000862149 | SCV002524392 | benign | Baraitser-Winter syndrome 1 | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002253618 | SCV002524393 | benign | Developmental malformations-deafness-dystonia syndrome | 2021-12-05 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501210 | SCV002806623 | likely benign | Baraitser-Winter syndrome 1; Developmental malformations-deafness-dystonia syndrome | 2021-09-17 | criteria provided, single submitter | clinical testing |