ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2543G>A (p.Arg848His)

gnomAD frequency: 0.00033  dbSNP: rs376029297
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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 RCV002103334 SCV002390105 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004747041 SCV005353266 likely benign DNAH1-related disorder 2024-06-25 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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