ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=)

dbSNP: rs369172908
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698060 SCV000732544 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing
Invitae RCV002066878 SCV002466475 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-10-17 criteria provided, single submitter clinical testing

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