ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.9660C>T (p.Asn3220=)

gnomAD frequency: 0.00004  dbSNP: rs183262663
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001495774 SCV001700463 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2018-11-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438598 SCV004148085 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7

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