ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) (rs200926225)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189669 SCV000243315 likely benign not specified 2017-09-15 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 RCV000189669 SCV000269863 benign not specified 2016-02-09 criteria provided, single submitter clinical testing p.Gly165Ser in exon 2 of TBC1D24: This variant is not expected to have clinical significance because it has been identified in 0.5% (51/9574) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs200926225).
Invitae RCV000466794 SCV000560540 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2019-12-31 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000660402 SCV000782484 uncertain significance Early infantile epileptic encephalopathy 16 2016-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716688 SCV000847531 likely benign Seizures 2018-10-11 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Sub-population frequency in support of benign classification (not ava blue, manual h-w)

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