ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1535T>A (p.Met512Lys)

gnomAD frequency: 0.00494  dbSNP: rs72655984
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245838 SCV000307472 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266584 SCV000468052 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266584 SCV000561959 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000266584 SCV002706944 benign Primary ciliary dyskinesia 2015-08-13 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.

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