Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000422049 | SCV000536011 | likely benign | not specified | 2017-12-14 | 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. |
Eurofins Ntd Llc |
RCV000727038 | SCV000705089 | uncertain significance | not provided | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002522697 | SCV003452481 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-09-19 | criteria provided, single submitter | clinical testing |