Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000232465 | SCV000289851 | benign | Intellectual disability, autosomal dominant 8 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000616760 | SCV000730814 | benign | not specified | 2017-03-13 | 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 | RCV002313944 | SCV000847890 | likely benign | Inborn genetic diseases | 2016-07-08 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Ce |
RCV003437028 | SCV004164001 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | GRIN1: BP4, BP7 |