Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000303287 | SCV000331441 | benign | not specified | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000378063 | SCV000431077 | benign | Gonadotropin-independent familial sexual precocity | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000283585 | SCV000431078 | benign | Hypergonadotropic hypogonadism | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000319880 | SCV000431079 | benign | Leydig cell hypoplasia, type 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000303287 | SCV000614018 | benign | not specified | 2017-07-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000303287 | SCV000728653 | benign | not specified | 2017-07-24 | 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. |