Submissions for variant NM_001369.3(DNAH5):c.2229T>C (p.Asp743=)

gnomAD frequency: 0.53068  dbSNP: rs1445823

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155515	SCV000205214	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Asp743Asp in exon 15 of DNAH5: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 45.4% (3904/8600) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1445823).
PreventionGenetics, part of Exact Sciences	RCV000155515	SCV000307727	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095088	SCV000453260	benign	Primary ciliary dyskinesia 3	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000327249	SCV001000007	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001095088	SCV001738699	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001706050	SCV001899538	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000327249	SCV002729739	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	RCV001706050	SCV005306083	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000327249	SCV001458421	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000155515	SCV001742878	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155515	SCV001968165	benign	not specified		no assertion criteria provided	clinical testing