ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10344C>T (p.Pro3448=)

gnomAD frequency: 0.00004  dbSNP: rs200295282
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000909883 SCV001054715 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-06-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438579 SCV004148090 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7

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