Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000377014 | SCV000341423 | benign | not specified | 2016-05-02 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000377014 | SCV000520947 | benign | not specified | 2016-09-23 | 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, |
RCV000377014 | SCV000597121 | benign | not specified | 2016-05-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317819 | SCV000850702 | benign | Inborn genetic diseases | 2017-05-31 | 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. |
Invitae | RCV000863568 | SCV001004256 | benign | Creatine transporter deficiency | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001815381 | SCV002063358 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | SLC6A8: BS2 |