ClinVar Miner

Submissions for variant NM_181426.2(CCDC39):c.1363-3del

gnomAD frequency: 0.00199  dbSNP: rs551191744
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079589 SCV000291748 likely benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000767053 SCV000568811 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing In silico analysis, which includes splice predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 21131972, 22693285)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000481619 SCV000711977 likely benign not specified 2016-04-14 criteria provided, single submitter clinical testing c.1363-3delC: This variant is not expected to have clinical significance because it has been identified in 0.35% (17/4804) of Latino chromosomes and 0.34% (22/6 500) of African chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs551191744).
New York Genome Center RCV001836760 SCV002097926 uncertain significance Primary ciliary dyskinesia 14 2021-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV001079589 SCV002699645 likely benign Primary ciliary dyskinesia 2017-02-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003967672 SCV004779107 likely benign CCDC39-related condition 2023-06-16 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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