Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000591888 | SCV000707350 | pathogenic | not provided | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000591888 | SCV002504556 | pathogenic | not provided | 2020-01-24 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31152317) |