ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6274-5T>C

gnomAD frequency: 0.00035  dbSNP: rs74365849
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000279094 SCV000468127 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000279094 SCV000561956 likely benign Primary ciliary dyskinesia 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000279094 SCV002654371 likely benign Primary ciliary dyskinesia 2018-03-08 criteria provided, single submitter clinical testing This alteration is classified as likely 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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