Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000608725 | SCV000714612 | likely benign | not specified | 2017-12-07 | 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. |
Ambry Genetics | RCV000620254 | SCV000735982 | likely benign | Cardiovascular phenotype | 2015-08-19 | criteria provided, single submitter | clinical testing | Synonymous alterations with insufficient evidence to classify as benign |
Invitae | RCV001088596 | SCV000751447 | benign | DiGeorge Syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000713780 | SCV000844410 | benign | not provided | 2017-12-27 | criteria provided, single submitter | clinical testing |