Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189591 | SCV000243234 | benign | not specified | 2013-11-05 | criteria provided, single submitter | clinical testing | The variant is found in INFANT-EPI panel(s). |
Eurofins Ntd Llc |
RCV000189591 | SCV000707483 | likely benign | not specified | 2018-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000636599 | SCV000758038 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002262780 | SCV002546082 | benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | STXBP1: BS1, BS2 |
Ambry Genetics | RCV002399703 | SCV002710115 | benign | Inborn genetic diseases | 2016-04-15 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |