Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147810 | SCV000195283 | pathogenic | Lissencephaly due to TUBA1A mutation | 2014-05-30 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000767508 | SCV000898123 | likely pathogenic | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.481T>G, p.(Tyr161Asp) variant has been reported as a variant of germline/unknown origin. |