ClinVar Miner

Submissions for variant NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)

dbSNP: rs11547035
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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 RCV000155521 SCV000205220 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala8Ser in exon 1 of DNAI1: This variant is not expected to have clinical signif icance because it has been identified in 6.3% (542/8600) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS; dbSNP rs11547035).
PreventionGenetics, part of Exact Sciences RCV000155521 SCV000311862 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000377917 SCV000479736 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000377917 SCV001000529 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001719973 SCV001947304 benign not provided 2019-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000377917 SCV002734201 benign Primary ciliary dyskinesia 2014-12-01 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 RCV001719973 SCV005224150 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000377917 SCV001458176 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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