Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664564 | SCV000788551 | uncertain significance | Usher syndrome type 1F | 2017-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001485739 | SCV001690186 | likely benign | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001485739 | SCV002030949 | uncertain significance | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation, as the last 330 amino acids are replaced with 10 different amino acids, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27535533, 24077912) |