ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5114+22A>T

gnomAD frequency: 0.33456  dbSNP: rs4701988
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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 RCV000253787 SCV000307777 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527548 SCV001738634 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001689828 SCV001911432 benign not provided 2019-04-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001689828 SCV005306040 benign not provided criteria provided, single submitter not provided

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