ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7193G>A (p.Arg2398His)

gnomAD frequency: 0.00241  dbSNP: rs201299120
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535253 SCV000660289 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-30 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114679 SCV003799640 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003114679 SCV004185063 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNAH1: BP4, BS2

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