ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.3340G>A (p.Val1114Met)

gnomAD frequency: 0.00831  dbSNP: rs61740509
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000214593 SCV000113863 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214593 SCV000268849 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val1114Met in exon 20 of CCDC40: This variant is not expected to have clinical s ignificance because it has been identified in 10.8% (13/120) of Colombian chromo somes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.n ih.gov/projects/SNP; dbSNP rs61740509).
PreventionGenetics, part of Exact Sciences RCV000214593 SCV000313103 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266556 SCV000407225 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000379558 SCV000483686 likely benign Glycogen storage disease, type II 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000266556 SCV000558507 benign Primary ciliary dyskinesia 2025-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001126068 SCV001285221 benign Primary ciliary dyskinesia 15 2018-01-13 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001705773 SCV001887186 benign not provided 2018-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000266556 SCV002606640 benign Primary ciliary dyskinesia 2016-08-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV001705773 SCV005214217 likely benign not provided criteria provided, single submitter not provided

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