ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2578-10_2578-7del

dbSNP: rs71600031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000455857 SCV000538942 likely 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, No homozygotes in ExAC, but on the low side of coverage. Gene is associated with PCD.
Labcorp Genetics (formerly Invitae), Labcorp RCV000456173 SCV000558042 benign not provided 2018-07-02 criteria provided, single submitter clinical testing
GeneDx RCV000456173 SCV001830945 likely benign not provided 2019-08-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833573 SCV002081776 benign Primary ciliary dyskinesia 2019-09-27 no assertion criteria provided clinical testing

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