ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=)

gnomAD frequency: 0.00004  dbSNP: rs61731478
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703963 SCV000832894 likely benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2025-01-06 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000728728 SCV000856337 uncertain significance not provided 2017-08-25 criteria provided, single submitter clinical testing
GeneDx RCV000728728 SCV001826949 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing

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