ClinVar Miner

Submissions for variant NM_138691.2(TMC1):c.2130-1del (rs1554731002)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599369 SCV000710029 pathogenic not provided 2017-11-17 criteria provided, single submitter clinical testing The c.2130-1delG splice site variant in the TMC1 gene has been published as a pathogenic variant in association with non-syndromic deafness (Bademci et al., 2016; Tekin et al., 2016). This pathogenic variant destroys the canonical splice acceptor site in intron 21, and is expected to cause abnormal gene splicing. The c.2130-1delG variant is not observed in large population cohorts (Lek et al., 2016).

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