Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082247 | SCV000114196 | benign | not specified | 2013-11-20 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001080740 | SCV000252869 | benign | Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082247 | SCV000314547 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000313246 | SCV000381497 | benign | Meckel-Gruber syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000370292 | SCV000381498 | benign | Bardet-Biedl syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000268851 | SCV000381499 | benign | Leber congenital amaurosis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000307583 | SCV000381500 | benign | Familial aplasia of the vermis | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
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. |
Genome- |
RCV001579180 | SCV001806608 | benign | Bardet-Biedl syndrome 14 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579181 | SCV001806609 | benign | Joubert syndrome 5 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579182 | SCV001806610 | benign | Meckel syndrome, type 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001579183 | SCV001806611 | benign | Senior-Loken syndrome 6 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000268851 | SCV001452845 | benign | Leber congenital amaurosis | 2020-09-16 | no assertion criteria provided | clinical testing |