Submissions for variant NM_018139.3(DNAAF2):c.2303A>G (p.Asp768Gly)

gnomAD frequency: 0.40859  dbSNP: rs9989177

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150422	SCV000197601	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Asp768Gly in exon 3 of DNAAF2: This variant is not expected to have clinical sig nificance because it has been identified in 46.3% (3980/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs9989177).
PreventionGenetics, part of Exact Sciences	RCV000150422	SCV000313200	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347806	SCV000386842	benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000373426	SCV000483480	benign	Congenital disorder of glycosylation	2016-06-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000608104	SCV000745499	benign	Primary ciliary dyskinesia 10	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000347806	SCV001000326	benign	Primary ciliary dyskinesia	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000608104	SCV001266780	benign	Primary ciliary dyskinesia 10	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	RCV001705968	SCV001856353	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000347806	SCV002734239	benign	Primary ciliary dyskinesia	2014-11-26	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics	RCV001705968	SCV005292873	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000608104	SCV000733381	benign	Primary ciliary dyskinesia 10		no assertion criteria provided	clinical testing