Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000008000 | SCV000625769 | benign | DiGeorge Syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618981 | SCV000735260 | benign | Cardiovascular phenotype | 2016-01-06 | criteria provided, single submitter | clinical testing | General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification |
Gene |
RCV000828677 | SCV000970374 | benign | not provided | 2017-08-28 | 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. |
Mendelics | RCV000008000 | SCV001141330 | benign | DiGeorge Syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000008000 | SCV000028205 | pathogenic | DiGeorge Syndrome | 2003-10-25 | no assertion criteria provided | literature only |