Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607872 | SCV000728998 | benign | not provided | 2019-04-17 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV003231540 | SCV000782175 | likely benign | Sotos syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317368 | SCV000849535 | likely benign | Inborn genetic diseases | 2017-05-09 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Invitae | RCV003231540 | SCV001001467 | likely benign | Sotos syndrome | 2022-11-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003231540 | SCV002054842 | benign | Sotos syndrome | 2021-07-15 | criteria provided, single submitter | clinical testing |