Submissions for variant NM_001369.3(DNAH5):c.6444+11C>T

gnomAD frequency: 0.39914  dbSNP: rs1348691

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150475	SCV000197661	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	6444+11C>T in intron 38 of DNAH5: 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 45.6% (2009/4406) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs1348691).
PreventionGenetics, part of Exact Sciences	RCV000150475	SCV000307801	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346327	SCV000453103	benign	Primary ciliary dyskinesia 3	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.
Pars Genome Lab	RCV000346327	SCV001738610	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001651010	SCV001861643	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055963	SCV002348987	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001651010	SCV005306027	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150475	SCV001740996	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150475	SCV001969144	benign	not specified		no assertion criteria provided	clinical testing