Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department of Neuroscience, |
RCV000054444 | SCV000082921 | pathogenic | Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects | 2012-07-20 | no assertion criteria provided | research | Converted during submission to Pathogenic. |
OMIM | RCV000128616 | SCV000172250 | uncertain significance | not provided | 2014-05-01 | no assertion criteria provided | literature only |