Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205099 | SCV001376335 | likely benign | Progressive myoclonic epilepsy type 7 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001549442 | SCV001769596 | likely benign | not provided | 2021-04-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451429 | SCV002613480 | likely benign | Inborn genetic diseases | 2017-12-18 | 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. |