Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001198366 | SCV001369278 | likely pathogenic | Pigmentary retinal dystrophy | 2020-02-26 | criteria provided, single submitter | clinical testing | This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3. |
OMIM | RCV000013894 | SCV000034141 | pathogenic | Retinitis pigmentosa 4 | 1991-08-01 | no assertion criteria provided | literature only |