Submissions for variant NM_001369.3(DNAH5):c.12708T>C (p.Gly4236=)

gnomAD frequency: 0.02551  dbSNP: rs61744054

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220458	SCV000269008	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gly4236Gly in exon 74 of DNAH5: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 8.1% (355/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs61744054).
PreventionGenetics, part of Exact Sciences	RCV000220458	SCV000307698	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001095056	SCV000452956	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000293709	SCV000558003	benign	Primary ciliary dyskinesia	2024-01-31	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001095056	SCV001738552	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001706226	SCV001895589	benign	not provided	2019-02-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000293709	SCV002682110	benign	Primary ciliary dyskinesia	2015-01-16	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	RCV001095056	SCV003800242	benign	Primary ciliary dyskinesia 3	2023-10-06	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001706226	SCV005305985	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000293709	SCV001462287	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing