ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.3134G>A (p.Arg1045Gln)

gnomAD frequency: 0.00003  dbSNP: rs754350576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692949 SCV000820800 benign Primary ciliary dyskinesia 2023-08-16 criteria provided, single submitter clinical testing
GeneDx RCV001766489 SCV001999180 uncertain significance not provided 2019-11-09 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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