Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000084367 | SCV001145227 | likely pathogenic | not provided | 2018-11-26 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/281164 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. |
VIB Department of Molecular Genetics, |
RCV000084367 | SCV000116503 | not provided | not provided | no assertion provided | not provided | ||
Genome Diagnostics Laboratory, |
RCV000084367 | SCV001808129 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000084367 | SCV001964628 | pathogenic | not provided | no assertion criteria provided | clinical testing |