ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.729C>T (p.Pro243=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003067817 SCV003460344 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004617180 SCV005118552 likely benign Cardiovascular phenotype 2024-04-27 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.

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