ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)

gnomAD frequency: 0.00983  dbSNP: rs118143944
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233180 SCV000290404 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000250560 SCV000313086 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094526 SCV000407211 likely benign Primary ciliary dyskinesia 15 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000250560 SCV001365613 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile928Ile in exon 17 of CCDC40: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 1.6% (132/8296) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs118143944).
GeneDx RCV001559015 SCV001781072 likely benign not provided 2021-08-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000233180 SCV002746374 benign Primary ciliary dyskinesia 2016-09-28 criteria provided, single submitter clinical testing This alteration is classified as 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001094526 SCV003799547 benign Primary ciliary dyskinesia 15 2023-11-09 criteria provided, single submitter clinical testing

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