Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000176751 | SCV000228460 | likely benign | not specified | 2014-11-25 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000359420 | SCV000379752 | likely benign | Early Infantile Epileptic Encephalopathy, Autosomal Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084759 | SCV000557001 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713152 | SCV000843731 | benign | not provided | 2017-09-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317026 | SCV000850056 | likely benign | Inborn genetic diseases | 2016-10-10 | 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 |
RCV000713152 | SCV001944483 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing |