Submissions for variant NM_001369.3(DNAH5):c.13348A>G (p.Ile4450Val)

gnomAD frequency: 0.53284  dbSNP: rs3734110

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150463	SCV000197649	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ile4450Val in exon 77 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 49.5% (2183/4406) of African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs3734110).
PreventionGenetics, part of Exact Sciences	RCV000150463	SCV000307705	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095033	SCV000452934	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	RCV000342133	SCV001000003	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001095033	SCV001738550	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001705987	SCV001841611	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001095033	SCV001875585	benign	Primary ciliary dyskinesia 3	2021-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000342133	SCV002694473	benign	Primary ciliary dyskinesia	2014-12-11	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	RCV001705987	SCV005305980	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000342133	SCV001462280	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150463	SCV001741329	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150463	SCV001967762	benign	not specified		no assertion criteria provided	clinical testing