Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734429 | SCV000862571 | uncertain significance | not provided | 2018-07-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734429 | SCV004167971 | likely pathogenic | not provided | 2023-11-06 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |