Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598677 | SCV000710459 | likely pathogenic | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | Frameshift 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 |
Counsyl | RCV000675017 | SCV000800444 | likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2018-06-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000675017 | SCV002076500 | likely pathogenic | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 2020-11-23 | no assertion criteria provided | clinical testing |