Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002468984 | SCV002765531 | likely pathogenic | not provided | 2018-01-26 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate aberrant splicing and reduced enzymatic activity (Pierce et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 517579, 27650058, 31589614, 34406847, 31827252, 31449985, 21464306) |
OMIM | RCV000032820 | SCV000056588 | pathogenic | Perrault syndrome 2 | 2011-04-19 | no assertion criteria provided | literature only | |
Clin |
RCV000032820 | SCV000243998 | likely pathogenic | Perrault syndrome 2 | 2013-06-27 | no assertion criteria provided | literature only | |
Gene |
RCV002513308 | SCV003525970 | not provided | Perrault syndrome | no assertion provided | literature only | Created an alternate splice site leading to deletion of 12 codons. |