ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)

gnomAD frequency: 0.00575  dbSNP: rs76334696
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Total submissions: 8
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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 RCV000155523 SCV000205222 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr535Asn in exon 17 of DNAI1: This variant is not expected to have clinical sig nificance because it has been identified in 5.9% (11/186) of Finnish chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.go v/projects/SNP; dbSNP rs76334696).
PreventionGenetics, part of Exact Sciences RCV000155523 SCV000311856 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327821 SCV000479755 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000327821 SCV000624326 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706052 SCV001916738 benign not provided 2021-05-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000327821 SCV002707903 benign Primary ciliary dyskinesia 2015-01-02 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 RCV001706052 SCV005226342 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000327821 SCV001462307 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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