Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000118574 | SCV000171965 | benign | not specified | 2013-12-19 | 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. |
Laboratory for Molecular Medicine, |
RCV000118574 | SCV000269856 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | c.1143-6C>T in intron 4 of TBC1D24: This variant is not expected to have clinica l significance because it has been identified in 5.9% (255/4332) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs73490287). |
Illumina Laboratory Services, |
RCV000353539 | SCV000396215 | benign | Familial infantile myoclonic epilepsy | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV000467526 | SCV000560549 | 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 | |
Al Jalila Children's Genomics Center, |
RCV000118574 | SCV001984135 | benign | not specified | 2020-09-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498537 | SCV002808038 | 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 | 2021-11-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000118574 | SCV000152980 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Genome Diagnostics Laboratory, |
RCV000118574 | SCV001926902 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000118574 | SCV001969491 | benign | not specified | no assertion criteria provided | clinical testing |