Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038680 | SCV000062358 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Asp378His in Exon 12 of NEBL: This variant is not expected to have clinical si gnificance because it has been identified in 8.2% (578/7018) of European America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs41277370). |
Gene |
RCV000038680 | SCV000170735 | benign | not specified | 2014-01-17 | 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 | RCV000620002 | SCV000739776 | benign | Cardiovascular phenotype | 2012-09-26 | 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 |
Invitae | RCV001517828 | SCV001726407 | benign | Primary dilated cardiomyopathy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038680 | SCV003928268 | likely benign | not specified | 2023-04-04 | criteria provided, single submitter | clinical testing |