Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079605 | SCV000111487 | benign | not specified | 2013-02-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000079605 | SCV000170911 | benign | not specified | 2013-01-08 | 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, |
RCV000079605 | SCV000194425 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082647 | SCV000559649 | benign | Developmental and epileptic encephalopathy, 9 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712508 | SCV000843013 | benign | not provided | 2018-05-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311587 | SCV000846930 | benign | Inborn genetic diseases | 2016-03-21 | 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. |
Fulgent Genetics, |
RCV001082647 | SCV002813692 | likely benign | Developmental and epileptic encephalopathy, 9 | 2022-05-17 | criteria provided, single submitter | clinical testing |