ClinVar Miner

Submissions for variant NM_017868.4(TTC12):c.1801A>G (p.Ile601Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Wuerzburg RCV003326094 SCV004032150 uncertain significance Ciliary dyskinesia, primary, 45 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928984 SCV004737593 likely benign TTC12-related disorder 2022-05-08 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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