Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000615448 | SCV000717900 | benign | not specified | 2017-08-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics Inc | RCV000711409 | SCV000841773 | benign | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001522082 | SCV001731551 | benign | Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis | 2024-01-31 | criteria provided, single submitter | clinical testing |