ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11200A>C (p.Lys3734Gln)

gnomAD frequency: 0.00770  dbSNP: rs114257197
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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 RCV000221887 SCV000270139 benign not specified 2018-05-10 criteria provided, single submitter clinical testing The p.Lys3734Gln in exon 68 of DNAH11 is classified as benign because it has bee n identified in 2.5% (607/23998) of African chromosomes, including 4 homozygotes , by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs114257197). ACMG/AMP Criteria applied: BA1.
PreventionGenetics, part of Exact Sciences RCV000221887 SCV000307426 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000462181 SCV000561990 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001731440 SCV001982317 likely benign not provided 2021-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000462181 SCV002746862 benign Primary ciliary dyskinesia 2015-08-19 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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