ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5418C>T (p.Ser1806=)

gnomAD frequency: 0.00066  dbSNP: rs199597694
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000884762 SCV001028162 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-12-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920615 SCV004735428 likely benign DNAH1-related condition 2023-05-30 criteria provided, single submitter 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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