ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1363-23dup

dbSNP: rs374074877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000392687 SCV000442238 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454603 SCV000538611 benign not specified 2016-03-29 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 RCV001691985 SCV001913522 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000392687 SCV002409597 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing

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