Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542748 | SCV000643249 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003139799 | SCV003824936 | uncertain significance | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003139799 | SCV004170286 | uncertain significance | not provided | 2023-04-06 | 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 |