ClinVar Miner

Submissions for variant NM_001372.4(DNAH9):c.69A>C (p.Arg23=)

gnomAD frequency: 0.00024  dbSNP: rs538221390
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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 RCV002928318 SCV003268961 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961243 SCV004772208 likely benign DNAH9-related disorder 2019-11-16 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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