Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732187 | SCV000860107 | uncertain significance | not provided | 2018-03-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000732187 | SCV001812019 | uncertain significance | not provided | 2022-10-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |