Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000592455 | SCV000705174 | uncertain significance | not provided | 2016-12-29 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000592455 | SCV003853041 | uncertain significance | not provided | 2022-09-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |