Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001197936 | SCV001368720 | likely benign | Congenital cataracts-facial dysmorphism-neuropathy syndrome | 2018-11-21 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: PM2,BP1,BP4. |