ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.10071A>G (p.Leu3357=)

gnomAD frequency: 0.00001  dbSNP: rs554676148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554508 SCV000660179 likely benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2023-12-19 criteria provided, single submitter clinical testing
Baylor Genetics RCV001330873 SCV001522717 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 RCV003431126 SCV004148087 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH1: BP4, BP7

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