ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.51T>C (p.Pro17=)

gnomAD frequency: 0.00014  dbSNP: rs548368038
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001459933 SCV001663789 likely benign Congenital primary aphakia; Anterior segment dysgenesis 2023-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002342023 SCV002641974 likely benign Cardiovascular phenotype 2020-08-19 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 RCV003331161 SCV004039355 benign not specified 2023-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711649 SCV005260388 likely benign not provided criteria provided, single submitter not provided

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