Submissions for variant NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=)

gnomAD frequency: 0.49481  dbSNP: rs2304854

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155470	SCV000205162	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Pro1139Pro in exon 20 of CCDC40: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 44.7% (3724/8334) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs2304854).
Eurofins Ntd Llc (ga)	RCV000155470	SCV000227709	benign	not specified	2014-05-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000155470	SCV000313104	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000376233	SCV000407227	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287474	SCV000483687	benign	Glycogen storage disease, type II	2016-06-14	criteria provided, single submitter	clinical testing
Invitae	RCV000376233	SCV001000199	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608384	SCV001285223	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	RCV000608384	SCV001776154	benign	Primary ciliary dyskinesia 15	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV001706031	SCV001881498	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000376233	SCV002618552	benign	Primary ciliary dyskinesia	2016-07-07	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	RCV000608384	SCV000733719	benign	Primary ciliary dyskinesia 15		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155470	SCV001969782	benign	not specified		no assertion criteria provided	clinical testing