ClinVar Miner

Submissions for variant NM_015512.5(DNAH1):c.5669G>T (p.Gly1890Val)

gnomAD frequency: 0.00190  dbSNP: rs200859252
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530482 SCV000660263 benign Spermatogenic failure 18; Ciliary dyskinesia, primary, 37 2024-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114677 SCV003800564 likely benign not provided 2022-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905483 SCV004721864 benign DNAH1-related condition 2021-02-01 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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