Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000243768 | SCV000314510 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000300901 | SCV000381291 | likely benign | Renal dysplasia and retinal aplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000353438 | SCV000381292 | likely benign | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000260946 | SCV000381293 | likely benign | Bardet-Biedl syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000332442 | SCV000381294 | likely benign | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385919 | SCV000381295 | likely benign | Leber congenital amaurosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001640573 | SCV001856179 | benign | not provided | 2018-05-10 | criteria provided, single submitter | clinical testing |