Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hôpital Purpan | RCV001728160 | SCV001976486 | pathogenic | Matthew-Wood syndrome | 2021-10-06 | no assertion criteria provided | research | Rare in general population (present only once among 232162 alleles in GnomAD) Predicted deleterious by 11/12 predictions softwares In trans with a nonsens variation In vitro functional studies demonstrated the effect on the protein function |