ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2578-25dup

dbSNP: rs71600031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001680142 SCV001899799 benign not provided 2019-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV001832853 SCV004848996 likely benign Primary ciliary dyskinesia 2015-08-07 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.
Natera, Inc. RCV001832853 SCV002081777 benign Primary ciliary dyskinesia 2019-09-27 no assertion criteria provided clinical testing

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