ClinVar Miner

Submissions for variant NM_017950.4(CCDC40):c.676+13T>C

gnomAD frequency: 0.34974  dbSNP: rs7212525
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Total submissions: 8
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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 RCV000155465 SCV000205157 benign not specified 2013-02-21 criteria provided, single submitter clinical testing 676+13T>C in intron 4 of CCDC40: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 40.2% (1665/4138) of African American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs7212525).
Preventiongenetics, part of Exact Sciences RCV000155465 SCV000313112 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000604867 SCV000407171 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.
Genome-Nilou Lab RCV000604867 SCV001776002 benign Primary ciliary dyskinesia 15 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001709505 SCV001937839 benign not provided 2018-07-09 criteria provided, single submitter clinical testing
Invitae RCV002056083 SCV002405394 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000604867 SCV000733713 benign Primary ciliary dyskinesia 15 no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000155465 SCV001970564 benign not specified no assertion criteria provided clinical testing

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