Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Service de Biochimie Médicale et Biologie Moléculaire, |
RCV001644551 | SCV001860341 | pathogenic | Exostoses, multiple, type 2 | 2021-09-14 | no assertion criteria provided | clinical testing | Frameshift variant absent in gnomAD and found in 2 families with multiple osteochondromas in our laboratory |