Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001719878 | SCV001947150 | benign | not provided | 2021-06-09 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001719878 | SCV005291996 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000118956 | SCV000153626 | 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. | |
Diagnostic Laboratory, |
RCV000615836 | SCV000733480 | benign | Galloway-Mowat syndrome 1 | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118956 | SCV001971050 | benign | not specified | no assertion criteria provided | clinical testing |