Submissions for variant NM_017950.4(CCDC40):c.*15T>C

gnomAD frequency: 0.35502  dbSNP: rs2304853

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150258	SCV000197263	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	*15T>C in exon 20 of CCDC40: This variant is not expected to have clinical signi ficance because it has been identified in 49.7% (1929/3880) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs2304853).
Eurofins Ntd Llc (ga)	RCV000150258	SCV000227710	benign	not specified	2014-05-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000150258	SCV000313048	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000272230	SCV000407228	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000326592	SCV000483688	benign	Glycogen storage disease, type II	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000612774	SCV001285224	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	RCV000612774	SCV001776155	benign	Primary ciliary dyskinesia 15	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001636689	SCV001848285	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000612774	SCV000733720	benign	Primary ciliary dyskinesia 15		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150258	SCV001972955	benign	not specified		no assertion criteria provided	clinical testing