Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV003137730 | SCV000237452 | uncertain significance | not provided | 2023-06-27 | 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 |
Invitae | RCV000643748 | SCV000765435 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137730 | SCV003819564 | uncertain significance | not provided | 2019-06-26 | criteria provided, single submitter | clinical testing |