Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001706826 | SCV001934345 | pathogenic | Dilated cardiomyopathy 3B | 2020-12-01 | criteria provided, single submitter | clinical testing | This variant was identified as hemizygous. |
Neuberg Centre For Genomic Medicine, |
RCV003339723 | SCV004046961 | likely pathogenic | Duchenne muscular dystrophy | criteria provided, single submitter | clinical testing | The frameshift DMD c.4684del (p.Arg1562GlufsTer9) variant has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1562GlufsTer9 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has been submitted in ClinVar as Pathogenic, but no details are available for independent assessment. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. |