ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.661A>T (p.Met221Leu)

gnomAD frequency: 0.00024  dbSNP: rs147525173
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198716 SCV000252575 benign Primary ciliary dyskinesia 2024-01-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000252558 SCV000307559 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000198716 SCV000468037 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000198716 SCV002667787 benign Primary ciliary dyskinesia 2016-02-24 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.
CeGaT Center for Human Genetics Tuebingen RCV003437003 SCV004163772 likely benign not provided 2023-06-01 criteria provided, single submitter clinical testing DNAH11: BP4, BS2

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