Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000116716 | SCV000150685 | likely benign | not specified | 2013-08-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000116716 | SCV000167711 | benign | not specified | 2014-03-27 | 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. |
Eurofins Ntd Llc |
RCV000116716 | SCV000345283 | benign | not specified | 2016-09-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000459840 | SCV000563063 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313865 | SCV000847946 | likely benign | Inborn genetic diseases | 2016-09-06 | 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. |
Ce |
RCV003430669 | SCV004150895 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | CHRNA4: BP4, BS1 |