Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000501932 | SCV000590912 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-07-19 | no assertion criteria provided | clinical testing | The Y1567T variant is not reported in either 1000 Genomes or ExAC databases. The in silico prediction of the variant is damaging by LRT and Mutation Taster2. The L574P variant has a minor allele frequency of 0.02% and 0.002% in 1000 genomes and ExAC database respectively. The in silico prediction of the variant is damaging by SIFT and MutationTaster2. |