Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250153 | SCV000316374 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000378021 | SCV000450330 | benign | Ellis-van Creveld syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000250153 | SCV000566422 | benign | not specified | 2017-12-06 | 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. |
Natera, |
RCV000378021 | SCV001456838 | benign | Ellis-van Creveld syndrome | 2020-09-16 | no assertion criteria provided | clinical testing |