ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.2744A>G (p.Asn915Ser)

gnomAD frequency: 0.00302  dbSNP: rs61734643
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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 RCV000542674 SCV000660235 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001565423 SCV001788762 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001565423 SCV003800486 benign not provided 2023-08-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001565423 SCV005261462 likely benign not provided criteria provided, single submitter not provided

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