Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000712049 | SCV000241361 | benign | not provided | 2021-05-03 | criteria provided, single submitter | clinical testing | Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function; In silico analysis supports that this missense variant does not alter protein structure/function; Located in a region that tolerates variation and lacks pathogenic variants |
Invitae | RCV001085982 | SCV000559738 | likely benign | Koolen-de Vries syndrome | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712049 | SCV000842463 | benign | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Human Genetics - |
RCV001723759 | SCV001956664 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000712049 | SCV001966562 | likely benign | not provided | no assertion criteria provided | clinical testing |