Submissions for variant NM_023036.6(DNAI2):c.865-5A>G

gnomAD frequency: 0.32904  dbSNP: rs8076337

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155524	SCV000205223	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	865-5A>G in intron 7 of DNAI2: This variant is not expected to have clinical sig nificance because it has been identified in 41.0% (3527/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs8076337).
PreventionGenetics, part of Exact Sciences	RCV000155524	SCV000314164	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094531	SCV000406354	benign	Primary ciliary dyskinesia 9	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.
Invitae	RCV000389843	SCV001000191	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094531	SCV001761337	benign	Primary ciliary dyskinesia 9	2021-07-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001706053	SCV001841178	benign	not provided	2018-11-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000389843	SCV002685645	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: 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.
Natera, Inc.	RCV000389843	SCV001459502	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing