ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) (rs189089167)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000118578 SCV000171968 benign not specified 2013-12-06 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000118578 SCV000232128 benign not specified 2015-04-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000118578 SCV000269859 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Ser503Ser in exon 7 of TBC1D24: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 2.7% (106/3960) of African American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs189089167).
Invitae RCV000227590 SCV000286315 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000384074 SCV000396221 likely benign Myoclonic epilepsy, familial infantile 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716681 SCV000847523 benign Seizures 2016-01-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000227590 SCV001146068 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000118578 SCV000152984 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.

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