ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10216G>A (p.Val3406Ile)

gnomAD frequency: 0.00178  dbSNP: rs201752275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000543286 SCV000660181 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437290 SCV004148089 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing DNAH1: BP4

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