ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.6191A>G (p.Asn2064Ser)

gnomAD frequency: 0.00959  dbSNP: rs145673040
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000538691 SCV000660275 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001637088 SCV001848118 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001637088 SCV004148079 benign not provided 2024-01-01 criteria provided, single submitter clinical testing DNAH1: BP4, BS1, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001637088 SCV004564156 benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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