Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147795 | SCV000195266 | likely pathogenic | Lissencephaly due to TUBA1A mutation | 2013-02-28 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000767441 | SCV000898056 | pathogenic | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1148C>T, p.(Ala383Val) variant has been reported as a variant of germline/unknown origin. |
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, |
RCV000201372 | SCV000239930 | pathogenic | Abnormality of neuronal migration | 2014-10-31 | no assertion criteria provided | clinical testing |