Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000596609 | SCV000705846 | uncertain significance | not provided | 2017-02-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001088904 | SCV001017837 | likely benign | Charcot-Marie-Tooth disease type 2 | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004024778 | SCV002755249 | likely benign | not specified | 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. |