Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000945861 | SCV001091924 | benign | Klippel-Feil syndrome 3, autosomal dominant | 2022-09-09 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505405 | SCV002811804 | likely benign | Klippel-Feil syndrome 3, autosomal dominant; Isolated microphthalmia 7; Microphthalmia, isolated, with coloboma 6 | 2021-07-28 | criteria provided, single submitter | clinical testing |