ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.4531G>A (p.Val1511Met)

gnomAD frequency: 0.01825  dbSNP: rs61734638
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551646 SCV000660250 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001544710 SCV001763889 likely benign not provided 2018-07-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31213628, 29449551)
CeGaT Center for Human Genetics Tuebingen RCV001544710 SCV004148075 benign not provided 2023-10-01 criteria provided, single submitter clinical testing DNAH1: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001544710 SCV004564699 benign not provided 2023-10-13 criteria provided, single submitter clinical testing

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