Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000335729 | SCV000476910 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000888802 | SCV000718536 | likely benign | not provided | 2019-10-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000888802 | SCV001032455 | benign | not provided | 2024-01-05 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821109 | SCV002066193 | likely benign | not specified | 2017-12-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000888802 | SCV004160658 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CDK5RAP2: BP4, BP7, BS2 |