ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11762-45T>C

gnomAD frequency: 0.60391  dbSNP: rs3777093
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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 RCV000249954 SCV000307679 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527510 SCV001738557 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001683018 SCV001898284 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683018 SCV005305994 benign not provided criteria provided, single submitter not provided

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