Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000081812 | SCV000113747 | benign | not specified | 2013-11-13 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000081812 | SCV000150434 | benign | not specified | 2013-01-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000461713 | SCV000563092 | benign | Oculofaciocardiodental syndrome | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000720930 | SCV000851814 | benign | History of neurodevelopmental disorder | 2013-01-09 | 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 |
Gene |
RCV000827068 | SCV000968680 | benign | not provided | 2018-05-01 | 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. |