Submissions for variant NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)

gnomAD frequency: 0.20136  dbSNP: rs11793196

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150495	SCV000197681	benign	not specified	2013-02-21	criteria provided, single submitter	clinical testing	Val335Ile in exon 11 of DNAI1: This variant is not expected to have clinical sig nificance because it has been identified in 32.2% (1420/4406) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs11793196).
PreventionGenetics, part of Exact Sciences	RCV000150495	SCV000311847	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000315714	SCV000479749	likely benign	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000315714	SCV001000500	benign	Primary ciliary dyskinesia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000607144	SCV001748487	benign	Kartagener syndrome	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001705997	SCV001866710	benign	not provided	2018-11-27	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000315714	SCV002705972	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: 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	RCV001705997	SCV005226335	likely benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000607144	SCV000734695	benign	Kartagener syndrome		no assertion criteria provided	clinical testing
Natera, Inc.	RCV000315714	SCV001462303	benign	Primary ciliary dyskinesia	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000150495	SCV001969494	benign	not specified		no assertion criteria provided	clinical testing