Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003232214 | SCV003929929 | pathogenic | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35281663, 34014443, 32333439) |
Centro de Biología Molecular Severo Ochoa, |
RCV001093704 | SCV001245612 | pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency | 2020-02-12 | no assertion criteria provided | research |