ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5182A>T (p.Ser1728Cys)

gnomAD frequency: 0.00103  dbSNP: rs138320093
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528233 SCV000660257 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980049 SCV004798412 benign DNAH1-related condition 2019-09-24 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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