Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
College of Ophthalmology, |
RCV004821253 | SCV005437154 | uncertain significance | Retinitis pigmentosa 4 | no assertion criteria provided | clinical testing | One variant was detected in the RHO gene of the subject: NM_000539.3:exon1:c.61C>T:p.R21C variant, and the ACMG rating is of uncertain clinical significance. |