Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146996 | SCV000194333 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000418701 | SCV000510824 | benign | not provided | 2016-09-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000146996 | SCV000514008 | benign | not specified | 2015-07-30 | 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. |
Ambry Genetics | RCV002312972 | SCV000847761 | benign | Inborn genetic diseases | 2016-09-06 | 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 | RCV000418701 | SCV001019966 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000605251 | SCV000734792 | likely benign | X-linked intellectual disability-cerebellar hypoplasia syndrome | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000418701 | SCV001799716 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000418701 | SCV001928764 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000418701 | SCV001974075 | likely benign | not provided | no assertion criteria provided | clinical testing |