Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441062 | SCV000514858 | likely benign | not specified | 2017-09-01 | 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. |
Invitae | RCV001084227 | SCV000560539 | benign | Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Center for Pediatric Genomic Medicine, |
RCV000514560 | SCV000611010 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000441062 | SCV000711548 | benign | not specified | 2014-11-24 | criteria provided, single submitter | clinical testing | Ala476Asp in exon 7 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 0.9% (38/4142) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs202216463). |
Ambry Genetics | RCV000718636 | SCV000849500 | benign | Seizures | 2017-02-01 | criteria provided, single submitter | clinical testing | General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance |