Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001657746 | SCV001873262 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000608963 | SCV001981283 | benign | Occipital pachygyria and polymicrogyria | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001657746 | SCV002402733 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000117461 | SCV000151679 | 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, |
RCV000608963 | SCV000734658 | benign | Occipital pachygyria and polymicrogyria | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117461 | SCV001963636 | benign | not specified | no assertion criteria provided | clinical testing |