ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.11057A>G (p.Tyr3686Cys)

gnomAD frequency: 0.00083  dbSNP: rs145752160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002207102 SCV002364039 benign not provided 2023-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958566 SCV004774447 likely benign DNAH9-related disorder 2019-07-12 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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