ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) (rs755794991)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517453 SCV000615755 likely benign not specified 2017-06-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720396 SCV000851273 likely benign Seizures 2016-10-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV000863886 SCV001004615 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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