Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671037 | SCV000795976 | uncertain significance | Alstrom syndrome | 2017-11-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003322807 | SCV004028453 | uncertain significance | not provided | 2023-02-18 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 7 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; No nearby in-frame duplications or missense variants have been reported as pathogenic in HGMD or at GeneDx |