Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193020 | SCV000246645 | uncertain significance | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000193020 | SCV000512204 | benign | not specified | 2015-06-18 | 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 | RCV000534012 | SCV000639964 | benign | Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002314787 | SCV000848203 | benign | Inborn genetic diseases | 2016-11-04 | 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 Diagnostics Laboratory, |
RCV002277449 | SCV002566178 | likely benign | Ehlers-Danlos syndrome | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001274230 | SCV001458103 | benign | Menkes kinky-hair syndrome | 2019-11-11 | no assertion criteria provided | clinical testing | |
Diagnostic Laboratory, |
RCV000193020 | SCV001739710 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001573423 | SCV001799300 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000193020 | SCV001917553 | benign | not specified | no assertion criteria provided | clinical testing |