Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000888837 | SCV001032491 | benign | not provided | 2018-06-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000888837 | SCV001882627 | benign | not provided | 2020-10-22 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000116550 | SCV000150508 | 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, |
RCV000888837 | SCV001800105 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000116550 | SCV001975545 | benign | not specified | no assertion criteria provided | clinical testing |