ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys)

gnomAD frequency: 0.00242  dbSNP: rs182389910
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Total submissions: 7
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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 RCV000213329 SCV000268992 benign not specified 2015-09-16 criteria provided, single submitter clinical testing p.Glu3745Lys in exon 69 of DNAH11: This variant is not expected to have clinical significance because it has been identified in 3.0% (360/11530), including 10 h omozygotes, of Latino chromosomes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs182389910).
Labcorp Genetics (formerly Invitae), Labcorp RCV000231725 SCV000286972 benign Primary ciliary dyskinesia 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000231725 SCV000468204 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000426049 SCV000511403 likely benign not provided 2017-02-16 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000426049 SCV001942400 benign not provided 2021-06-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31213628)
Ambry Genetics RCV000231725 SCV002751169 benign Primary ciliary dyskinesia 2016-02-03 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003615825 SCV004563063 benign Primary ciliary dyskinesia 7 2023-11-08 criteria provided, single submitter clinical testing

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