ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10080G>C (p.Gln3360His)

gnomAD frequency: 0.00038  dbSNP: rs116930509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000964673 SCV001111902 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000964673 SCV002806430 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003943134 SCV004769796 benign DNAH1-related condition 2019-08-09 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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