Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001760324 | SCV001989527 | uncertain significance | not provided | 2019-08-21 | criteria provided, single submitter | clinical testing | Identified with a second variant in trans in siblings with Perrault syndrome in published literature (Kosaki et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 29205794, 32369273) |
OMIM | RCV001283751 | SCV001469097 | pathogenic | Perrault syndrome 4 | 2021-01-15 | no assertion criteria provided | literature only | |
Gene |
RCV002537926 | SCV003525955 | not provided | Perrault syndrome | no assertion provided | literature only |