Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000335708 | SCV000344614 | uncertain significance | not provided | 2016-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084714 | SCV000649607 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000335708 | SCV000982085 | likely benign | not provided | 2018-03-20 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Natera, |
RCV001828273 | SCV002079803 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-02-14 | no assertion criteria provided | clinical testing |