Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128267 | SCV000171859 | benign | not specified | 2014-02-07 | 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. |
Genetic Services Laboratory, |
RCV000128267 | SCV000249026 | benign | not specified | 2016-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084967 | SCV000633787 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713520 | SCV000844141 | benign | not provided | 2017-12-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312945 | SCV000847754 | benign | Inborn genetic diseases | 2016-09-06 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Eurofins Ntd Llc |
RCV000128267 | SCV000863296 | likely benign | not specified | 2018-09-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808383 | SCV002056700 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000713520 | SCV002546094 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7, BS1 |