ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9588G>A (p.Thr3196=)

gnomAD frequency: 0.00010  dbSNP: rs751393038
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462125 SCV001666037 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2018-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970728 SCV004795623 likely benign DNAH1-related condition 2019-03-13 criteria provided, single submitter 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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