ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) (rs72768728)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128367 SCV000171961 benign not specified 2014-05-17 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.
Genetic Services Laboratory, University of Chicago RCV000128367 SCV000249122 likely benign not specified 2015-12-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000128367 SCV000269865 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Phe295Leu in exon 2 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (97/8510) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs72768728).
PreventionGenetics,PreventionGenetics RCV000128367 SCV000307011 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000128367 SCV000343730 benign not specified 2016-07-19 criteria provided, single submitter clinical testing
Invitae RCV000514759 SCV000560533 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514759 SCV000610802 likely benign not provided 2017-09-18 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514759 SCV000844394 benign not provided 2019-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716648 SCV000847490 benign Seizures 2017-07-12 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
CeGaT Praxis fuer Humangenetik Tuebingen RCV000514759 SCV001150744 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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