ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9783C>T (p.Arg3261=)

gnomAD frequency: 0.01969  dbSNP: rs61733865
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000542425 SCV000660318 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001712580 SCV001939782 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712580 SCV002506020 benign not provided 2023-10-16 criteria provided, single submitter clinical testing

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