Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250447 | SCV000309694 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000839722 | SCV000981626 | benign | not provided | 2018-06-14 | 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. |
Genome- |
RCV001527269 | SCV001738227 | benign | Miyoshi muscular dystrophy 1 | 2021-06-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660239 | SCV001875868 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001660238 | SCV001875869 | benign | Distal myopathy with anterior tibial onset | 2021-07-30 | criteria provided, single submitter | clinical testing |