ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2053-23A>C

gnomAD frequency: 0.00416  dbSNP: rs114717951
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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 RCV000251637 SCV000307725 benign not specified criteria provided, single submitter clinical testing
Pars Genome Lab RCV001527592 SCV001738700 benign Primary ciliary dyskinesia 3 2021-06-15 criteria provided, single submitter clinical testing
GeneDx RCV001564289 SCV001787433 likely benign not provided 2020-02-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001564289 SCV005259659 likely benign not provided criteria provided, single submitter not provided

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