ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11691-20dup

dbSNP: rs5882827
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824722 SCV000232405 uncertain significance not provided 2014-05-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001657960 SCV001875576 benign Primary ciliary dyskinesia 7 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000824722 SCV001937368 benign not provided 2019-02-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528954 SCV000307437 benign DNAH11-related disorder 2021-04-07 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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