Submissions for variant NM_001369.3(DNAH5):c.5115-4G>T

gnomAD frequency: 0.00551  dbSNP: rs141141086

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214168	SCV000269015	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	5115-4G>T in intron 31 of DNAH5: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 1.9% (83/4406) of African American chromosomes f rom a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.wash ington.edu/EVS; dbSNP rs141141086).
PreventionGenetics, part of Exact Sciences	RCV000214168	SCV000307781	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000464612	SCV000558023	benign	Primary ciliary dyskinesia	2025-01-23	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001152322	SCV001313534	likely 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx	RCV001658009	SCV001875058	likely benign	not provided	2021-01-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000464612	SCV002645556	benign	Primary ciliary dyskinesia	2016-07-27	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001152322	SCV004562082	likely benign	Primary ciliary dyskinesia 3	2023-09-21	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000464612	SCV001457370	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing