Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607729 | SCV000728020 | likely benign | not specified | 2018-02-22 | 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 |
RCV000731845 | SCV000859699 | uncertain significance | not provided | 2018-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002528689 | SCV003262048 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-04-14 | criteria provided, single submitter | clinical testing |