ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.7569C>T (p.Ser2523=)

gnomAD frequency: 0.01641  dbSNP: rs73072968
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524793 SCV000660294 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001595021 SCV001828034 likely benign not provided 2018-07-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001595021 SCV003800209 benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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