ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.8134A>G (p.Met2712Val)

gnomAD frequency: 0.01222  dbSNP: rs28434358
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539296 SCV000660298 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing

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