ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) (rs201060500)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000175685 SCV000269864 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ser262Leu in exon 2 of TBC1D24: This variant is not expected to have clinical si gnificance because it has been identified in 0.6% (27/4304) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175685 SCV000344765 likely benign not specified 2016-08-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427762 SCV000511191 likely benign not provided 2017-01-13 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000175685 SCV000514852 likely benign not specified 2017-06-01 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.
Invitae RCV001086285 SCV000560543 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2020-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000427762 SCV000615758 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing

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