Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000197117 | SCV000254850 | uncertain significance | Hereditary cancer-predisposing syndrome | 2015-05-09 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 12 of the MRE11A mRNA. It does not directly change the encoded amino acid sequence of the MRE11A protein. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance. |
| Ambry Genetics | RCV000197117 | SCV001171321 | likely benign | Hereditary cancer-predisposing syndrome | 2022-10-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |