ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.5272-15dup

dbSNP: rs35337694
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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 RCV000303854 SCV000453125 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 RCV000514871 SCV000610028 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000303854 SCV002645193 likely benign Primary ciliary dyskinesia 2014-09-03 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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