ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4365C>T (p.Ala1455=)

gnomAD frequency: 0.00218  dbSNP: rs185313035
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878759 SCV001021719 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438548 SCV004148073 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003920477 SCV004736167 benign DNAH1-related condition 2019-08-28 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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