Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000578531 | SCV000681185 | uncertain significance | not provided | 2017-12-06 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the DNM2 gene. The c.142 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). This substitution occurs at a position that is conserved across species. However, several in-silico splice prediction models predict the c.142 C>T variant does not affect splicing. In the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV001496064 | SCV001700755 | likely benign | Charcot-Marie-Tooth disease dominant intermediate B | 2020-05-20 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002395501 | SCV002701037 | likely benign | Inborn genetic diseases | 2019-07-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |