Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000275746 | SCV000336509 | uncertain significance | not provided | 2016-06-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000275746 | SCV002552803 | uncertain significance | not provided | 2022-01-11 | 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 splicing; Has not been previously published as pathogenic or benign to our knowledge |