Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227551 | SCV000290316 | benign | Progressive familial heart block type 1B | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Illumina Clinical Services Laboratory, |
RCV000306701 | SCV000414293 | uncertain significance | Progressive familial heart block | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000420786 | SCV000532175 | likely benign | not specified | 2017-04-10 | 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 | RCV000620174 | SCV000735092 | likely benign | Cardiovascular phenotype | 2015-07-17 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign |
ARUP Laboratories, |
RCV000756816 | SCV000884736 | benign | not provided | 2017-05-08 | criteria provided, single submitter | clinical testing |