ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1198-24C>A

gnomAD frequency: 0.43394  dbSNP: rs13180591
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247719 SCV000307681 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527597 SCV001738707 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001538715 SCV001756400 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001538715 SCV005306094 benign not provided criteria provided, single submitter not provided

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