Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000438432 | SCV000534181 | likely benign | not specified | 2016-11-30 | 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 |
RCV000732482 | SCV000860447 | uncertain significance | not provided | 2018-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001446078 | SCV001649120 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2023-05-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000732482 | SCV003818510 | uncertain significance | not provided | 2022-04-28 | criteria provided, single submitter | clinical testing |