Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704984 | SCV000241030 | likely benign | not provided | 2019-11-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000187439 | SCV000613348 | uncertain significance | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648322 | SCV000770138 | likely benign | Rett syndrome, congenital variant | 2024-01-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311266 | SCV000847111 | likely benign | Inborn genetic diseases | 2018-03-06 | 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. |
Genetic Services Laboratory, |
RCV000187439 | SCV002065064 | likely benign | not specified | 2019-01-23 | criteria provided, single submitter | clinical testing |