ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11884G>A (p.Val3962Met)

gnomAD frequency: 0.00037  dbSNP: rs199719583
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001296837 SCV001485812 benign Primary ciliary dyskinesia 2024-12-02 criteria provided, single submitter clinical testing
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill RCV001296837 SCV002573564 uncertain significance Primary ciliary dyskinesia 2021-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV001296837 SCV002635772 likely benign Primary ciliary dyskinesia 2022-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV005051885 SCV005685937 uncertain significance not provided 2024-07-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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