ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=)

gnomAD frequency: 0.00004  dbSNP: rs144714321
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868790 SCV001010161 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001545096 SCV001764358 likely benign not provided 2020-07-14 criteria provided, single submitter clinical testing

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