ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.837G>A (p.Thr279=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005220788 SCV005868572 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2025-01-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550801 SCV004716058 likely benign TBC1D24-related disorder 2020-10-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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