Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000790523 | SCV000929856 | uncertain significance | Intellectual disability, X-linked, syndromic 33 | criteria provided, single submitter | research | Mother and two maternal aunts are heteroygous for the variant and are unaffected. | |
Gene |
RCV003325516 | SCV004031699 | uncertain significance | not provided | 2023-02-28 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |