Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000147823 | SCV000195297 | likely pathogenic | Lissencephaly due to TUBA1A mutation | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000767446 | SCV000898061 | 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.995T>C, p.(Ile332Thr) variant has been reported as a variant of germline/unknown origin. |
University of Washington Center for Mendelian Genomics, |
RCV001291301 | SCV001479773 | uncertain significance | Lissencephaly | no assertion criteria provided | research |