Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unit of Genetics and Genomics of Neuromuscular Diseases, |
RCV000782173 | SCV000854649 | pathogenic | Charcot-Marie-Tooth disease, type 4H | 2018-11-30 | no assertion criteria provided | clinical testing | The variant NM_139241.2:c.514delG is predicted to generate a truncated protein (p.A172Gfs*28), and it has been identified in compound heterozygosity with a second frameshift variant (p.A738Sfs*5). |