ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2308C>G (p.Gln770Glu)

gnomAD frequency: 0.01655  dbSNP: rs74363541
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551261 SCV000660227 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2025-01-30 criteria provided, single submitter clinical testing
GeneDx RCV001672876 SCV001888243 benign not provided 2020-05-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001672876 SCV004564776 benign not provided 2023-08-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001672876 SCV005304598 benign not provided criteria provided, single submitter not provided

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