Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000333916 | SCV000333576 | likely pathogenic | not provided | 2015-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000333916 | SCV002762283 | likely pathogenic | not provided | 2022-12-02 | criteria provided, single submitter | clinical testing | Canonical splice site variant expected to result in aberrant splicing, although in the absence of functional evidence the actual effect of this sequence change is unknown.; Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |