ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.297A>G (p.Gln99=)

gnomAD frequency: 0.01778  dbSNP: rs77344166
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216144 SCV000269024 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Gln99Gln in exon 5 of DNAI1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 5.4% (236/4406) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs77344166).
Labcorp Genetics (formerly Invitae), Labcorp RCV000229436 SCV000289876 benign Primary ciliary dyskinesia 2025-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000216144 SCV000311863 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000229436 SCV000479739 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001707555 SCV001935788 benign not provided 2020-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV000229436 SCV002746225 benign Primary ciliary dyskinesia 2015-08-10 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.
Natera, Inc. RCV000229436 SCV001458181 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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