ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.855G>C (p.Leu285=)

dbSNP: rs769201984
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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 RCV002206664 SCV002493133 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2021-01-28 criteria provided, single submitter clinical testing

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