ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) (rs368735897)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189676 SCV000243322 benign not specified 2014-04-25 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.
Ambry Genetics RCV000716455 SCV000847296 likely benign Seizures 2016-08-23 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000189676 SCV000967309 likely benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly501Gly in exon 7 of TBC1D24: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/3962 African Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV000863639 SCV001004334 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

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