ClinVar Miner

Submissions for variant NM_001199107.2(TBC1D24):c.1207-16C>G

gnomAD frequency: 0.00016  dbSNP: rs201618854
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481666 SCV000565611 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV002063698 SCV002407935 benign Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 2023-12-26 criteria provided, single submitter clinical testing

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