ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.12034-24T>C

gnomAD frequency: 0.11146  dbSNP: rs17203442
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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 RCV000247376 SCV000307684 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527509 SCV001738556 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001709535 SCV001936764 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709535 SCV005305991 benign not provided criteria provided, single submitter not provided

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