Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000987354 | SCV001136633 | likely pathogenic | Pierpont syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Al Jalila Children’s Genomics Center, |
RCV000987354 | SCV001984563 | pathogenic | Pierpont syndrome | 2020-05-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003127562 | SCV003803186 | pathogenic | not provided | 2023-02-10 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge |