ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3835-3del (rs35398031)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196619 SCV000252763 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000196619 SCV000453232 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000455903 SCV000538939 benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
GeneDx RCV001533812 SCV001750677 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29089047, 25877373)
Natera, Inc. RCV000196619 SCV001458607 benign Primary ciliary dyskinesia 2019-08-23 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000455903 SCV001741409 benign not specified no assertion criteria provided clinical testing

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