ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2717A>G (p.Asp906Gly)

gnomAD frequency: 0.00434  dbSNP: rs61734644
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525395 SCV000660234 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003431127 SCV004148070 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH1: BS2
Reproductive Development, Murdoch Childrens Research Institute RCV000766153 SCV000882487 uncertain significance Premature ovarian insufficiency 2018-01-10 no assertion criteria provided research

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