Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000623766 | SCV000741001 | uncertain significance | Inborn genetic diseases | 2015-08-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000813287 | SCV000953643 | uncertain significance | Shprintzen-Goldberg syndrome | 2022-06-08 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 520744). 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 affected with SKI-related conditions. This variant is present in population databases (rs762410895, gnomAD 0.004%). This variant, c.1445_1450del, results in the deletion of 2 amino acid(s) of the SKI protein (p.Ala482_Glu483del), but otherwise preserves the integrity of the reading frame. |