Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000147343 | SCV000171061 | benign | not specified | 2013-10-02 | 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. |
Eurofins Ntd Llc |
RCV000147343 | SCV000335176 | benign | not specified | 2015-10-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000463085 | SCV000560514 | benign | Developmental and epileptic encephalopathy, 12 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002312587 | SCV000845875 | likely benign | Inborn genetic diseases | 2016-03-18 | 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. |
Genetic Services Laboratory, |
RCV000147343 | SCV000194716 | likely benign | not specified | no assertion criteria provided | clinical testing |