Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155677 | SCV000205387 | likely benign | not specified | 2013-04-26 | criteria provided, single submitter | clinical testing | Met317Leu in exon 9 of NEXN: This variant is not expected to have clinical signi ficance due to a lack of conservation across species, including mammals. Of note , 2 mammalian species as well as 2 more distant species have the variant amino a cid at this position and most other species have isoleucine (Ile) despite high n earby amino acid conservation. In addition, computational analyses (AlignGVGD, P olyPhen2, SIFT) do not suggest a high likelihood of impact to the protein. |
Gene |
RCV001697084 | SCV000727762 | likely benign | not provided | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000647288 | SCV000769077 | likely benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-12-07 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001170727 | SCV001333330 | benign | Cardiomyopathy | 2017-11-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002372017 | SCV002688207 | benign | Cardiovascular phenotype | 2021-12-15 | 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. |