ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.1198-45A>G

gnomAD frequency: 0.43382  dbSNP: rs13162553
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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 RCV000251200 SCV000307682 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527598 SCV001738708 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001610615 SCV001839058 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610615 SCV005306095 benign not provided criteria provided, single submitter not provided

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