Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000535581 | SCV000643386 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-01-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001729634 | SCV002577051 | uncertain significance | not provided | 2022-03-31 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss of function; Has not been previously published as pathogenic or benign to our knowledge |
Genome Diagnostics Laboratory, |
RCV001729634 | SCV001977975 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001729634 | SCV001979675 | uncertain significance | not provided | no assertion criteria provided | clinical testing |