Submissions for variant NM_001369.3(DNAH5):c.1503T>C (p.Ile501=)

gnomAD frequency: 0.43495  dbSNP: rs3213936

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150489	SCV000197675	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Ile501Ile in exon 11 of DNAH5: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 47.1% (2076/4406) o f African American chromosomes from a broad population by the NHLBI Exome Sequen cing Project (http://evs.gs.washington.edu/EVS; dbSNP rs3213936).
PreventionGenetics, part of Exact Sciences	RCV000150489	SCV000307714	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095054	SCV000453270	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	RCV000394893	SCV001000009	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001095054	SCV001738704	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001705994	SCV001843847	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000394893	SCV002702390	benign	Primary ciliary dyskinesia	2014-11-26	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	RCV001705994	SCV005306088	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000394893	SCV001462542	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000150489	SCV001742276	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150489	SCV001966397	benign	not specified		no assertion criteria provided	clinical testing