ClinVar Miner

Submissions for variant NM_001206927.2(DNAH8):c.8154C>T (p.Tyr2718=)

gnomAD frequency: 0.20785  dbSNP: rs4714192
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Total submissions: 3
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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 RCV000455055 SCV000538981 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
Invitae RCV001520280 SCV001729342 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683482 SCV001904992 benign not provided 2018-11-10 criteria provided, single submitter clinical testing

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