ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.12201CAA[1] (p.Asn4069del)

dbSNP: rs772396187
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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 RCV000655850 SCV000777781 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-12-17 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV000655850 SCV005440636 likely pathogenic Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 criteria provided, single submitter clinical testing PM2_Supporting+PM4+PM3+PP4

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