Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000178803 | SCV000167710 | benign | not specified | 2014-02-06 | 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 |
RCV000178803 | SCV000230961 | benign | not specified | 2016-01-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000460929 | SCV000563066 | benign | Autosomal dominant nocturnal frontal lobe epilepsy | 2024-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000178803 | SCV000612739 | benign | not specified | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316347 | SCV000851006 | likely benign | Inborn genetic diseases | 2016-05-06 | 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 |
RCV002510784 | SCV002821073 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | CHRNA4: BP4, BP7 |