Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000159465 | SCV000209414 | likely benign | not specified | 2014-04-22 | 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. |
Invitae | RCV000684966 | SCV000812431 | benign | Mowat-Wilson syndrome | 2023-10-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000684966 | SCV002045606 | uncertain significance | Mowat-Wilson syndrome | 2021-11-07 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV000684966 | SCV002574789 | uncertain significance | Mowat-Wilson syndrome | 2022-05-20 | criteria provided, single submitter | clinical testing | A heterozygous missense variation in exon 4 of the ZEB2 gene that results in the amino acid substitution of threonine for alanine at codon 129 was detected. The observed variant c.385G>A (p.Ala129Thr) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as uncertain significance. |
Ambry Genetics | RCV002354401 | SCV002622845 | likely benign | Inborn genetic diseases | 2017-11-15 | 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. |