Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000247889 | SCV000318987 | likely benign | Cardiovascular phenotype | 2013-10-21 | 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. |
| Eurofins Ntd Llc |
RCV000726524 | SCV000345227 | uncertain significance | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | |
| Gene |
RCV000726524 | SCV000619476 | uncertain significance | not provided | 2017-07-25 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the LMNA gene. The c.111 G>A variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This nucleotide substitution does not change the encoded amino acid and the nucleotide position (G) is only conserved in mammals. Several in silico splice algorithms do not predict that this change results in abnormal gene splicing; however, in the absence of functional mRNA studies, the physiological consequence of this variant cannot be precisely determined. |
| Color Diagnostics, |
RCV003532072 | SCV004359086 | likely benign | Cardiomyopathy | 2021-09-21 | criteria provided, single submitter | clinical testing |