ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.400C>T (p.Leu134=)

dbSNP: rs2065741660
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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 RCV002118420 SCV002445258 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2022-08-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003426347 SCV004142965 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing TBC1D24: PM2:Supporting, BP4

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