Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147082 | SCV000170902 | benign | not specified | 2013-08-02 | 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, |
RCV000147082 | SCV000194433 | likely benign | not specified | 2014-01-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000230678 | SCV000286299 | benign | Developmental and epileptic encephalopathy, 9 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000147082 | SCV000306978 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000147082 | SCV000339325 | benign | not specified | 2016-02-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316391 | SCV000850947 | benign | Inborn genetic diseases | 2016-03-04 | 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. |