Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000082247 | SCV000114196 | benign | not specified | 2013-11-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001080740 | SCV000252869 | benign | Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082247 | SCV000314547 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000313246 | SCV000381497 | benign | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000370292 | SCV000381498 | benign | Bardet-Biedl syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000268851 | SCV000381499 | benign | Leber congenital amaurosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000307583 | SCV000381500 | benign | Joubert syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000364690 | SCV000381501 | benign | Renal dysplasia and retinal aplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000827178 | SCV000968806 | benign | not provided | 2018-06-11 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Natera, |
RCV000268851 | SCV001452845 | benign | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |