Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734603 | SCV000862757 | uncertain significance | not provided | 2018-08-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734603 | SCV004028347 | uncertain significance | not provided | 2023-02-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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 |