ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8279A>G (p.Gln2760Arg)

gnomAD frequency: 0.00108  dbSNP: rs72657366
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514331 SCV000610276 uncertain significance not provided 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV001088593 SCV000624177 likely benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000514331 SCV002520185 uncertain significance not provided 2021-11-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001088593 SCV002679168 benign Primary ciliary dyskinesia 2019-10-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.

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