Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000327090 | SCV000390909 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000503377 | SCV000593829 | likely benign | not specified | 2016-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000907026 | SCV001051703 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000907026 | SCV002822173 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | KNL1: BP4, BP7 |