ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) (rs202162520)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189679 SCV000243325 benign not specified 2019-07-22 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,Partners HealthCare Personalized Medicine RCV000189679 SCV000269860 benign not specified 2015-07-16 criteria provided, single submitter clinical testing p.Arg57Cys in exon 2 of TBC1D24: This variant is not expected to have clinical s ignificance it has been identified in 0.3% (182/65958) of European chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs202162520).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000585579 SCV000332349 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000340164 SCV000396203 uncertain significance Myoclonic epilepsy, familial infantile 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000585579 SCV000560545 benign not provided 2019-02-26 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000189679 SCV000615752 uncertain significance not specified 2016-10-17 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585579 SCV000692828 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717076 SCV000847922 uncertain significance Seizures 2017-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Bioinformatics Core,Luxembourg Center for Systems Biomedicine RCV000656037 SCV000588313 pathogenic Rolandic epilepsy 2017-01-01 no assertion criteria provided case-control CAADphred>15
GenomeConnect, ClinGen RCV000585579 SCV000840178 not provided not provided no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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