Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557421 | SCV000656455 | benign | Developmental and epileptic encephalopathy, 32 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002315030 | SCV000848978 | likely benign | Inborn genetic diseases | 2017-02-08 | 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. |
Gene |
RCV001675934 | SCV001895095 | benign | not provided | 2020-02-04 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001675934 | SCV001927526 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001675934 | SCV001976202 | likely benign | not provided | no assertion criteria provided | clinical testing |