Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Personalized Medicine, |
RCV001374404 | SCV001571353 | likely pathogenic | See cases | 2021-02-01 | criteria provided, single submitter | clinical testing | Interpretation based on ACMG guidelines from 2015 (PS2+PM1+PM2) |