Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000417981 | SCV000512226 | benign | not specified | 2016-09-29 | 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 | RCV003761970 | SCV001719010 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000615284 | SCV001775438 | benign | Ehlers-Danlos syndrome progeroid type | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000615284 | SCV000734393 | benign | Ehlers-Danlos syndrome progeroid type | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000615284 | SCV000745658 | benign | Ehlers-Danlos syndrome progeroid type | 2015-02-25 | no assertion criteria provided | clinical testing |