Submissions for variant NM_001369.3(DNAH5):c.192+14C>G

gnomAD frequency: 0.41173  dbSNP: rs1530497

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150492	SCV000197678	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	192+14C>G in intron 2 of DNAH5: This variant is not expected to have clinical si gnificance because it is not located within the conserved splice consensus seque nce. It has been identified in 39.4% (1738/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wa shington.edu/EVS; dbSNP rs1530497).
PreventionGenetics, part of Exact Sciences	RCV000150492	SCV000307722	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000393451	SCV000453290	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.
Pars Genome Lab	RCV000393451	SCV001738564	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001651011	SCV001864783	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000393451	SCV001875602	benign	Primary ciliary dyskinesia 3	2021-07-30	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055965	SCV002432101	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001651011	SCV005306110	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150492	SCV001739737	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150492	SCV001975441	benign	not specified		no assertion criteria provided	clinical testing