Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000269884 | SCV000383417 | uncertain significance | Seckel syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000324906 | SCV000383418 | uncertain significance | Primary Microcephaly, Recessive | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001820919 | SCV002064209 | likely benign | not provided | 2021-05-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001820919 | SCV004010217 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | CENPJ: BS2 |