Submissions for variant NM_017950.4(CCDC40):c.1159+12C>T

gnomAD frequency: 0.19106  dbSNP: rs2289533

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150252	SCV000197257	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	1159+12C>T in intron 7 of CCDC40: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence. It has been identified in 21.4% (1740/8114) of European American chromoso mes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs .washington.edu/EVS; dbSNP rs2289533).
PreventionGenetics, part of Exact Sciences	RCV000150252	SCV000313056	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000601685	SCV000407180	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx	RCV001640188	SCV001859912	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Invitae	RCV002055958	SCV002332337	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000601685	SCV000733715	benign	Primary ciliary dyskinesia 15		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150252	SCV001971026	benign	not specified		no assertion criteria provided	clinical testing