ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.510C>T (p.Ala170=)

gnomAD frequency: 0.30320  dbSNP: rs34082359
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173422 SCV000224537 benign not specified 2017-09-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000173422 SCV000311874 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517596 SCV001726124 benign Congenital primary aphakia; Anterior segment dysgenesis 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001711462 SCV001939145 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336418 SCV002642541 benign Cardiovascular phenotype 2018-12-04 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.
Fulgent Genetics, Fulgent Genetics RCV002500455 SCV002811382 benign Congenital primary aphakia; Cataract 34 multiple types; Aortic aneurysm, familial thoracic 11, susceptibility to 2021-10-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000173422 SCV003928354 benign not specified 2023-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003343670 SCV004049355 benign Congenital primary aphakia 2023-04-11 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485547 SCV004240692 benign Familial thoracic aortic aneurysm and aortic dissection 2022-11-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711462 SCV005284533 benign not provided criteria provided, single submitter not provided

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