Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732643 | SCV000860618 | uncertain significance | not provided | 2018-04-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002233739 | SCV001091442 | likely benign | Autosomal dominant epilepsy with auditory features | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002458347 | SCV002737768 | likely benign | Inborn genetic diseases | 2017-10-20 | 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. |