Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536531 | SCV000643297 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-02-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003313096 | SCV004012553 | uncertain significance | not provided | 2023-01-05 | 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 |
Mayo Clinic Laboratories, |
RCV003313096 | SCV004225930 | uncertain significance | not provided | 2022-06-30 | criteria provided, single submitter | clinical testing |