ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8765C>T (p.Ala2922Val)

gnomAD frequency: 0.00214  dbSNP: rs182141515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000556808 SCV000660305 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716567 SCV005305706 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003915661 SCV004736838 likely benign DNAH1-related disorder 2022-02-03 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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