Submissions for variant NM_001369.3(DNAH5):c.12468A>C (p.Gly4156=)

gnomAD frequency: 0.40053  dbSNP: rs30169

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155502	SCV000205200	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Gly4156Gly in exon 72 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 42.4% (3649/8600) of European American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs30169).
PreventionGenetics, part of Exact Sciences	RCV000155502	SCV000307693	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094956	SCV000452963	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	RCV000358362	SCV001000004	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Pars Genome Lab	RCV001094956	SCV001738554	benign	Primary ciliary dyskinesia 3	2021-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001706043	SCV001841372	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094956	SCV001875587	benign	Primary ciliary dyskinesia 3	2021-07-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000358362	SCV002674096	benign	Primary ciliary dyskinesia	2014-12-10	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	RCV001706043	SCV005305987	benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV000358362	SCV001462289	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000155502	SCV001744444	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000155502	SCV001969657	benign	not specified		no assertion criteria provided	clinical testing