Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734343 | SCV000862474 | uncertain significance | not provided | 2018-07-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000734343 | SCV003921604 | likely pathogenic | not provided | 2022-06-15 | 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 at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV003465668 | SCV004204639 | likely pathogenic | Polycystic kidney disease 4 | 2023-06-06 | criteria provided, single submitter | clinical testing |