Submissions for variant NM_017950.4(CCDC40):c.677-4C>G

gnomAD frequency: 0.19337  dbSNP: rs2289530

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150251	SCV000197256	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	677-4C>G in intron 4 of CCDC40: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 23.3% (1932/8296) of European American chromosome s from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS; dbSNP rs2289530).
PreventionGenetics, part of Exact Sciences	RCV000150251	SCV000313114	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000611923	SCV000407172	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.
Invitae	RCV000346669	SCV001000196	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001705958	SCV001882658	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000346669	SCV002662419	benign	Primary ciliary dyskinesia	2016-07-08	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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000611923	SCV000733714	benign	Primary ciliary dyskinesia 15		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150251	SCV001971318	benign	not specified		no assertion criteria provided	clinical testing