Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000428006 | SCV000527625 | likely benign | not specified | 2016-05-11 | 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. |
Color Diagnostics, |
RCV001188439 | SCV001355498 | likely benign | Cardiomyopathy | 2019-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001500060 | SCV001704838 | likely benign | Hypertrophic cardiomyopathy | 2021-08-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003168665 | SCV003911270 | uncertain significance | Cardiovascular phenotype | 2023-02-21 | criteria provided, single submitter | clinical testing | The c.3057G>A variant (also known as p.V1019V), located in coding exon 29 of the MYBPC3 gene, results from a G to A substitution at nucleotide position 3057. This nucleotide substitution does not change the valine at codon 1019. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration may result in the creation or strengthening of a novel splice donor site. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |