ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.162G>A (p.Val54=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002949323 SCV003284523 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-05-30 criteria provided, single submitter clinical testing

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