Submissions for variant NM_001369.3(DNAH5):c.9721-12A>T

gnomAD frequency: 0.35219  dbSNP: rs12655133

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000153160	SCV000202627	benign	not specified	2014-02-18	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000153160	SCV000205203	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	9721-12A>T in intron 57 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 37.8% (3248/8600) of European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs12655133).
PreventionGenetics, part of Exact Sciences	RCV000153160	SCV000307839	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000339742	SCV000453063	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	RCV000339742	SCV001738601	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000339742	SCV001875593	benign	Primary ciliary dyskinesia 3	2021-07-30	criteria provided, single submitter	clinical testing
GeneDx	RCV001675640	SCV001895554	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002056030	SCV002471653	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675640	SCV005306002	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000153160	SCV001740389	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000153160	SCV001972211	benign	not specified		no assertion criteria provided	clinical testing