Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001711285 | SCV001939628 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000614843 | SCV001981284 | benign | Occipital pachygyria and polymicrogyria | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001711285 | SCV002341223 | benign | not provided | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001711285 | SCV005323041 | benign | not provided | criteria provided, single submitter | not provided | ||
Genetic Services Laboratory, |
RCV000117463 | SCV000151681 | 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, |
RCV000614843 | SCV000734659 | benign | Occipital pachygyria and polymicrogyria | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000117463 | SCV001971973 | benign | not specified | no assertion criteria provided | clinical testing |