Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001925744 | SCV002177613 | uncertain significance | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2021-03-10 | 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 B9D1-related conditions. This variant is present in population databases (rs201498591, ExAC 0.002%). This sequence change disrupts the translational stop signal of the B9D1 mRNA. It is expected to extend the length of the B9D1 protein by 9 additional amino acid residues. |
Breakthrough Genomics, |
RCV004693950 | SCV005192776 | uncertain significance | not provided | criteria provided, single submitter | not provided |