Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000049287 | SCV001366549 | pathogenic | Perrault syndrome 4 | 2019-05-06 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5. |
OMIM | RCV000049287 | SCV000077545 | pathogenic | Perrault syndrome 4 | 2013-04-04 | no assertion criteria provided | literature only | |
Gene |
RCV002513679 | SCV003525957 | not provided | Perrault syndrome | no assertion provided | literature only |