Submissions for variant NM_001369.3(DNAH5):c.12910-11C>T

gnomAD frequency: 0.39090  dbSNP: rs30175

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150464	SCV000197650	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	12910-11C>T in intron 74 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 42.3% (3635/8600) of European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs30175).
PreventionGenetics, part of Exact Sciences	RCV000150464	SCV000307699	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000290306	SCV000452953	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	RCV000290306	SCV001738551	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000290306	SCV001875586	benign	Primary ciliary dyskinesia 3	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001689693	SCV001908452	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055962	SCV002404406	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001689693	SCV005305984	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150464	SCV001740609	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150464	SCV001972456	benign	not specified		no assertion criteria provided	clinical testing