Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Molecular Pathology, |
RCV000416552 | SCV000494270 | uncertain significance | Axenfeld-Rieger syndrome type 1 | 2014-11-21 | no assertion criteria provided | clinical testing | Missense; no published observations; alternative allele encoding p.Arg91Pro (rs104893859) suggested pathogenic. Insufficient evidence available. |