Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593445 | SCV000704284 | uncertain significance | not provided | 2018-07-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001405000 | SCV001606910 | likely benign | Walker-Warburg congenital muscular dystrophy | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377231 | SCV002667835 | likely benign | Cardiovascular phenotype | 2021-12-07 | 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. |