Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001290338 | SCV001478337 | uncertain significance | Stuve-Wiedemann syndrome | 2021-02-01 | no assertion criteria provided | clinical testing | PM2_supporting PP3 PP4 PM3_supporting; the variant was detected in homozygous state (paternal consanguinity) |