ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11402C>G (p.Pro3801Arg)

gnomAD frequency: 0.00061  dbSNP: rs146362213
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153158 SCV000202625 benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000153158 SCV000268993 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Pro3801Arg in exon 70 of DNAH11: This variant is not expected to have clinical s ignificance because it has been identified in 3.0% (6/200) of Han Chinese chromo somes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.n ih.gov/projects/SNP; dbSNP rs146362213).
Illumina Laboratory Services, Illumina RCV000344393 SCV000468211 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000344393 SCV000750519 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000344393 SCV002613196 benign Primary ciliary dyskinesia 2020-01-10 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.

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