ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5288C>T (p.Ser1763Leu)

gnomAD frequency: 0.01985  dbSNP: rs61739896
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529164 SCV000660260 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001539857 SCV001757676 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001539857 SCV002506024 benign not provided 2023-10-16 criteria provided, single submitter clinical testing

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