Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734931 | SCV000863111 | pathogenic | not provided | 2018-08-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734931 | SCV004168057 | pathogenic | not provided | 2023-10-19 | 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: 10220506) |