ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1969C>G (p.Pro657Ala)

gnomAD frequency: 0.00004  dbSNP: rs199996069
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000655840 SCV000777771 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000655840 SCV002800552 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2022-01-17 criteria provided, single submitter clinical testing

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