Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000627074 | SCV000747734 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-18 | no assertion criteria provided | clinical testing | The observed variant c.634delC (p. Leu212CysfsTer15) is not reported in 1000 Genomes and ExAc databases. The in silico prediction of the variant is disease causing by MutationTaster2. |