ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10782C>T (p.Leu3594=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002923640 SCV003273906 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2021-12-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003434530 SCV004148092 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7

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