ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5152A>G (p.Ile1718Val)

gnomAD frequency: 0.00029  dbSNP: rs137855415
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215305 SCV000269001 benign not specified 2015-10-12 criteria provided, single submitter clinical testing p.Ile1718Val in exon 30 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 2.0% (90/4388) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs137855415).
Illumina Laboratory Services, Illumina RCV000299427 SCV000468110 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000299427 SCV000750528 benign Primary ciliary dyskinesia 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000299427 SCV002644827 benign Primary ciliary dyskinesia 2016-04-13 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV004541307 SCV004782398 benign DNAH11-related disorder 2019-08-14 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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