Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000642878 | SCV000764565 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-07 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424220 | SCV004155277 | uncertain significance | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | TTN: PM2 |
Gene |
RCV003424220 | SCV004167994 | uncertain significance | not provided | 2023-10-12 | 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 |