ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7109A>C (p.Asp2370Ala)

gnomAD frequency: 0.00060  dbSNP: rs202011102
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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 RCV001473698 SCV001677853 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000530950 SCV002770416 uncertain significance not provided 2022-06-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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