Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556140 | SCV000655828 | benign | Charcot-Marie-Tooth disease axonal type 2Z | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002330968 | SCV002634568 | likely benign | Inborn genetic diseases | 2020-04-06 | 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. |