Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001588821 | SCV001824757 | pathogenic | not provided | 2020-12-16 | 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 in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 20378821, 25525159) |
Fulgent Genetics, |
RCV002476999 | SCV002787586 | pathogenic | X-linked Alport syndrome | 2021-11-03 | criteria provided, single submitter | clinical testing |