ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7230+32A>G

gnomAD frequency: 0.23667  dbSNP: rs56046501
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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 RCV000248650 SCV000307813 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527532 SCV001738606 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001651158 SCV001868305 benign not provided 2018-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651158 SCV005306018 benign not provided criteria provided, single submitter not provided

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