ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1206+7A>G

gnomAD frequency: 0.00001  dbSNP: rs2065771868
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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 RCV002201155 SCV002481449 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-08-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004706427 SCV005215101 likely benign not provided criteria provided, single submitter not provided

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