ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) (rs61731477)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000349147 SCV000337701 benign not specified 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV001705419 SCV000514856 benign not provided 2019-05-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24291220)
Invitae RCV000462511 SCV000560537 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2020-12-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000349147 SCV000615749 benign not specified 2020-08-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000349147 SCV000711546 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr399Met in exon 5 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 0.8% (33/4158) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs61731477).

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