Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000627352 | SCV000748344 | pathogenic | not provided | 2021-01-27 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation as the last 104 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the Human Gene Mutation Database (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
Institute of Medical Genetics and Applied Genomics, |
RCV000627352 | SCV001447754 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Genome |
RCV001265370 | SCV001443495 | pathogenic | CHAMP1-related syndrome | 2018-09-28 | no assertion criteria provided | provider interpretation | Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-09-28 and interpreted as Pathogenic. Variant was initially reported on 2018-05-30 by GTR ID of laboratory name 193071. The reporting laboratory might also submit to ClinVar. |