Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000598845 | SCV000710537 | pathogenic | not provided | 2020-09-25 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids with an unclear effect on protein function; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV000680001 | SCV000807439 | uncertain significance | Intellectual disability, autosomal dominant 6 | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in a 7-year-old female with intellectual disability, no speech, hypotonia, seizure-like episodes, microcephaly, failure to thrive, loose joints, eye abnormalities |
Mendelics | RCV000680001 | SCV001138652 | likely pathogenic | Intellectual disability, autosomal dominant 6 | 2019-05-28 | criteria provided, single submitter | clinical testing |