Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000148005 | SCV000169862 | benign | not specified | 2013-01-22 | 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, |
RCV000148005 | SCV000195503 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000148005 | SCV000231740 | benign | not specified | 2015-05-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000266678 | SCV000555867 | benign | Mowat-Wilson syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316379 | SCV000850751 | likely benign | Inborn genetic diseases | 2016-08-16 | 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. |
Genome- |
RCV000266678 | SCV002045701 | benign | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003221815 | SCV003916135 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | ZEB2: BP4, BS1 |