Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV002510670 | SCV002820175 | likely pathogenic | Short stature-brachydactyly-obesity-global developmental delay syndrome | criteria provided, single submitter | clinical testing | This variant has not been reported previously in affected individuals. The variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant is expected to cause protein truncation due to termination. Loss of function variants have been reported previously to be disease causing in PRMT7.This variant is classified as likely pathogenic as per ACMG guidelines. |