Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000421684 | SCV000150339 | likely benign | not specified | 2018-12-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001719860 | SCV000530893 | benign | not provided | 2018-11-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079282 | SCV000762484 | likely benign | Developmental and epileptic encephalopathy, 8 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002433607 | SCV002750891 | likely benign | Inborn genetic diseases | 2017-12-29 | 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. |
Genome Diagnostics Laboratory, |
RCV000421684 | SCV001929499 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001719860 | SCV001973160 | likely benign | not provided | no assertion criteria provided | clinical testing |