Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000514560 | SCV000514858 | benign | not provided | 2019-04-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084227 | SCV000560539 | benign | Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 | 2024-02-01 | 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 | RCV002318397 | SCV000849500 | benign | Inborn genetic diseases | 2017-02-01 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Fulgent Genetics, |
RCV002506020 | SCV002807438 | likely benign | Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome; DOORS syndrome; Familial infantile myoclonic epilepsy; Autosomal recessive nonsyndromic hearing loss 86; Developmental and epileptic encephalopathy, 16; Autosomal dominant nonsyndromic hearing loss 65 | 2021-08-06 | criteria provided, single submitter | clinical testing |