Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118193 | SCV000533389 | benign | not specified | 2016-12-08 | 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 | RCV001572794 | SCV002441999 | benign | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118193 | SCV000152552 | 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. | |
Laboratory of Diagnostic Genome Analysis, |
RCV001572794 | SCV001797715 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118193 | SCV001969049 | benign | not specified | no assertion criteria provided | clinical testing |