Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000202697 | SCV000257920 | uncertain significance | not specified | 2015-07-10 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000202697 | SCV000272020 | uncertain significance | not specified | 2015-03-18 | criteria provided, single submitter | clinical testing | The p.Lys1095Asn variant in MYH6 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Lys1095Asn v ariant is uncertain. |