ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) (rs370477379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768328 SCV000899008 uncertain significance DOORS syndrome; Myoclonic epilepsy, familial infantile; Deafness, autosomal recessive 86; Early infantile epileptic encephalopathy 16; Deafness, autosomal dominant 65 2017-10-23 criteria provided, single submitter clinical testing TBC1D24 NM_001199107.1 exon 2 p.Leu245Pro (c.734T>C): This variant has not been reported in the literature but is present in 2/111650 European alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996171 SCV001150743 uncertain significance not provided 2016-04-01 criteria provided, single submitter clinical testing

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