ClinVar Miner

Submissions for variant NM_001199107.1(TBC1D24):c.-7C>T (rs199852092)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128362 SCV000171956 benign not specified 2014-02-14 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.
Illumina Clinical Services Laboratory,Illumina RCV000319561 SCV000396197 uncertain significance Myoclonic epilepsy, familial infantile 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000128362 SCV000270891 likely benign not specified 2015-07-16 criteria provided, single submitter clinical testing c.-7C>T in exon 1 of TBC1D24: This variant is not expected to have clinical significance because it has been identified in 0.2% (109/65832) of European chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP rs199852092).

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