Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000153479 | SCV000202989 | benign | not specified | 2014-02-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000153479 | SCV000250590 | benign | not specified | 2014-09-22 | 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 | RCV003764940 | SCV000288797 | benign | FG syndrome | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000618419 | SCV000738387 | benign | Cardiovascular phenotype | 2015-08-25 | 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) |
Ambry Genetics | RCV000719189 | SCV000850055 | benign | History of neurodevelopmental disorder | 2015-08-25 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: In silico models in agreement (benign) ,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |