ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.276C>T (p.Leu92=)

gnomAD frequency: 0.00134  dbSNP: rs143712915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878655 SCV001021592 benign Congenital primary aphakia; Anterior segment dysgenesis 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001565577 SCV001788946 likely benign not provided 2020-10-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 20140963)
Ambry Genetics RCV002434165 SCV002752295 likely benign Cardiovascular phenotype 2019-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330985 SCV004039352 benign not specified 2023-08-24 criteria provided, single submitter clinical testing

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