ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7573G>A (p.Gly2525Arg)

gnomAD frequency: 0.00001  dbSNP: rs771328747
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001580359 SCV001810042 uncertain significance Primary ciliary dyskinesia 2020-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001580359 SCV003260521 likely benign Primary ciliary dyskinesia 2024-09-23 criteria provided, single submitter clinical testing

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