ClinVar Miner

Submissions for variant NM_138691.3(TMC1):c.1764-5T>C

gnomAD frequency: 0.00032  dbSNP: rs373603119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001557860 SCV001779704 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001557860 SCV002337404 likely benign not provided 2024-09-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542007 SCV004769174 likely benign TMC1-related disorder 2019-08-01 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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