Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000245300 | SCV000308485 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000245300 | SCV000729128 | benign | not specified | 2016-12-20 | 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. |
Invitae | RCV001522057 | SCV001731518 | benign | not provided | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002500890 | SCV002808482 | benign | Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37 | 2021-07-30 | criteria provided, single submitter | clinical testing |