Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000114191 | SCV000314540 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Genome- |
RCV001578861 | SCV001806210 | benign | Bardet-Biedl syndrome 14 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578862 | SCV001806211 | benign | Joubert syndrome 5 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578863 | SCV001806212 | benign | Meckel syndrome, type 4 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001578864 | SCV001806213 | benign | Senior-Loken syndrome 6 | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001647121 | SCV001856685 | benign | not provided | 2018-06-26 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001647121 | SCV005234248 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000114191 | SCV000147744 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. |