ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.1263G>T (p.Thr421=)

gnomAD frequency: 0.00016  dbSNP: rs111568726
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000950538 SCV001096857 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-12-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330877 SCV001522721 uncertain significance Ciliary dyskinesia, primary, 37 2019-09-06 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
CeGaT Center for Human Genetics Tuebingen RCV003438616 SCV004148064 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7

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