Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501493 | SCV000594429 | likely benign | not specified | 2016-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697004 | SCV000726150 | likely benign | not provided | 2020-09-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314866 | SCV000848948 | likely benign | Inborn genetic diseases | 2017-02-07 | 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. |
Labcorp Genetics |
RCV001392124 | SCV001593758 | likely benign | Charcot-Marie-Tooth disease axonal type 2O | 2025-01-30 | criteria provided, single submitter | clinical testing |