ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) (rs527719763)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000716947 SCV000847792 likely benign Seizures 2016-09-08 criteria provided, single submitter clinical testing In silico models in agreement (benign) ;Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001498328 SCV001703078 likely benign Epileptic encephalopathy, early infantile, 1; Deafness, autosomal dominant 65; Caused by mutation in the TBC1 domain family, member 24 2020-07-16 criteria provided, single submitter clinical testing
GeneDx RCV001655574 SCV001868036 likely benign not provided 2018-09-07 criteria provided, single submitter clinical testing

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