Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000496041 | SCV000584062 | likely pathogenic | TELO2-related intellectual disability-neurodevelopmental disorder | 2017-06-08 | criteria provided, single submitter | research | |
Gene |
RCV001554922 | SCV001776256 | uncertain significance | not provided | 2021-04-30 | criteria provided, single submitter | clinical testing | 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 |
Ambry Genetics | RCV002524061 | SCV003527824 | uncertain significance | Inborn genetic diseases | 2022-03-29 | criteria provided, single submitter | clinical testing | The c.1772T>G (p.V591G) alteration is located in exon 15 (coding exon 14) of the TELO2 gene. This alteration results from a T to G substitution at nucleotide position 1772, causing the valine (V) at amino acid position 591 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |