Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000680103 | SCV000807544 | uncertain significance | Nicolaides-Baraitser syndrome | 2017-09-01 | criteria provided, single submitter | clinical testing | Likely pathogenicity based on finding it once in our laboratory de novo in an 11-year-old male with global delays with regression, hypotonia, asthma |
Baylor Genetics | RCV001533099 | SCV001748919 | likely pathogenic | SMARCA2-related BAFopathy | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001562725 | SCV001785535 | pathogenic | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 25326635) |