Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001246246 | SCV001419587 | uncertain significance | CHARGE association | 2019-11-05 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals with CHD7-related conditions. This variant is present in population databases (rs761153051, ExAC 0.009%). This variant, c.2312_2314del, results in the deletion of 1 amino acid(s) of the CHD7 protein (p.Glu771del), but otherwise preserves the integrity of the reading frame. |
Gene |
RCV003106161 | SCV003761714 | uncertain significance | not provided | 2022-07-28 | criteria provided, single submitter | clinical testing | In-frame deletion of one amino acid in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |