ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6970C>G (p.Leu2324Val) (rs201323940)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000155487 SCV000205184 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu2324Val in exon 42 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (22/3790) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
Invitae RCV000629560 SCV000750508 likely benign Primary ciliary dyskinesia 2020-07-24 criteria provided, single submitter clinical testing

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