Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000829518 | SCV000971248 | benign | not provided | 2018-06-19 | 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- |
RCV001553824 | SCV001774891 | benign | Gnathodiaphyseal dysplasia | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001553825 | SCV001774892 | benign | Miyoshi muscular dystrophy 3 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001553826 | SCV001774893 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2L | 2021-07-14 | criteria provided, single submitter | clinical testing |