Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000194397 | SCV000113594 | benign | not specified | 2016-01-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194397 | SCV000209398 | benign | not specified | 2015-07-28 | 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, |
RCV000194397 | SCV000249487 | benign | not specified | 2016-03-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000349126 | SCV000555852 | benign | Mowat-Wilson syndrome | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311656 | SCV000846706 | benign | Inborn genetic diseases | 2017-09-22 | 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. |
Genome- |
RCV000349126 | SCV002045678 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing |