Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000126475 | SCV000169982 | benign | not specified | 2013-09-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Preventiongenetics, |
RCV000126475 | SCV000316431 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000126475 | SCV000336242 | benign | not specified | 2015-10-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000456912 | SCV000555716 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312575 | SCV000846980 | likely benign | Inborn genetic diseases | 2016-06-16 | 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. |
Ce |
RCV002055650 | SCV002496690 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KCNQ2: BP4, BP7, BS1 |