ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.579C>G (p.Pro193=)

gnomAD frequency: 0.00001  dbSNP: rs1174698590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182918 SCV002347076 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2024-02-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003161374 SCV003855972 likely benign Cardiovascular phenotype 2022-11-02 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.
PreventionGenetics, part of Exact Sciences RCV003923489 SCV004741311 likely benign FOXE3-related disorder 2019-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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