Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000116788 | SCV000517549 | benign | not specified | 2015-12-10 | 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. |
Invitae | RCV001510538 | SCV001717601 | benign | COG4-congenital disorder of glycosylation | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001510538 | SCV001821562 | benign | COG4-congenital disorder of glycosylation | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001582583 | SCV001821563 | benign | Microcephalic osteodysplastic dysplasia, Saul-Wilson type | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116788 | SCV000150772 | 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. |