Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000000212 | SCV001950104 | pathogenic | Frank-Ter Haar syndrome | 2021-08-26 | criteria provided, single submitter | clinical testing | This variant was identified as homozygous. |
OMIM | RCV000000212 | SCV000020355 | pathogenic | Frank-Ter Haar syndrome | 2010-02-12 | no assertion criteria provided | literature only | |
Lupski Lab, |
RCV000000212 | SCV000809061 | likely pathogenic | Frank-Ter Haar syndrome | 2017-06-01 | no assertion criteria provided | research | |
Laboratoires de Diagnostic Génétique, |
RCV000000212 | SCV000999009 | pathogenic | Frank-Ter Haar syndrome | no assertion criteria provided | clinical testing |