Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV003144459 | SCV003831339 | uncertain significance | not provided | 2022-09-02 | criteria provided, single submitter | clinical testing | |
Foundation for Research in Genetics and Endocrinology, |
RCV000656701 | SCV000747733 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-18 | no assertion criteria provided | clinical testing | The observed variant c.1397+2dupT is not reported in 1000 Genomes and its minor allele frequency is <0.01% in ExAC databases. The in silico predictions of the variant is disease causing by MutationTaster2. |