ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10305G>A (p.Thr3435=)

gnomAD frequency: 0.01677  dbSNP: rs75513160
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531031 SCV000660177 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001712530 SCV001941932 benign not provided 2020-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712530 SCV004564742 benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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