Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001188736 | SCV001355872 | likely benign | Cardiomyopathy | 2019-01-31 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001479176 | SCV001683469 | likely benign | Hypertrophic cardiomyopathy | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003373016 | SCV004096141 | uncertain significance | Cardiovascular phenotype | 2023-07-15 | criteria provided, single submitter | clinical testing | The c.3100-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 23 in the MYH7 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |