Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000174606 | SCV000225928 | benign | not specified | 2014-06-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000399455 | SCV000367965 | likely benign | Retinal degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000878667 | SCV001021605 | benign | Isolated microphthalmia 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001726019 | SCV002585362 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | C1QTNF5: BS2; MFRP: BP4, BP7, BS2 |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001726019 | SCV001967168 | likely benign | not provided | no assertion criteria provided | clinical testing |