Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146984 | SCV000194320 | benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000146984 | SCV000309730 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000146984 | SCV000516516 | benign | not specified | 2016-03-31 | 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 | RCV001512114 | SCV001719461 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001699127 | SCV001926699 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000146984 | SCV001968008 | benign | not specified | no assertion criteria provided | clinical testing |