Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000032830 | SCV001367769 | pathogenic | Autism, susceptibility to, 18 | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP3. |
OMIM | RCV000032830 | SCV000056599 | risk factor | Autism, susceptibility to, 18 | 2012-12-21 | no assertion criteria provided | literature only |