Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724787 | SCV000225894 | uncertain significance | not provided | 2015-05-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724787 | SCV000720760 | benign | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317004 | SCV000850372 | likely benign | Inborn genetic diseases | 2016-12-28 | 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. |
Invitae | RCV001403653 | SCV001605528 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-09-29 | criteria provided, single submitter | clinical testing |