Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000252407 | SCV000314777 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000358935 | SCV000367976 | likely benign | Retinal degeneration | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000877886 | SCV001020695 | benign | Isolated microphthalmia 5 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292500 | SCV002585363 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | C1QTNF5: BS1, BS2; MFRP: BP4, BS1, BS2 |