Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001368297 | SCV001564686 | uncertain significance | not provided | 2023-12-14 | criteria provided, single submitter | clinical testing | This variant, c.6451_6462del, results in the deletion of 4 amino acid(s) of the CEP250 protein (p.Glu2151_Arg2154del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779829454, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with CEP250-related conditions. ClinVar contains an entry for this variant (Variation ID: 1059081). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Clinical Genetics, |
RCV001368297 | SCV001918128 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001368297 | SCV001970070 | uncertain significance | not provided | no assertion criteria provided | clinical testing |