Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000014152 | SCV000034400 | pathogenic | Spinocerebellar ataxia type 14 | 2005-06-01 | no assertion criteria provided | literature only | |
Gene |
RCV000014152 | SCV000058620 | not provided | Spinocerebellar ataxia type 14 | no assertion provided | literature only | ||
Genome Diagnostics Laboratory, |
RCV001698941 | SCV001926944 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001698941 | SCV001966401 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001698941 | SCV001979708 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |