ClinVar Miner

Submissions for variant NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly)

gnomAD frequency: 0.00350  dbSNP: rs552420470
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000325906 SCV000340108 likely benign not specified 2016-03-12 criteria provided, single submitter clinical testing
Invitae RCV000877910 SCV001020723 benign Congenital primary aphakia; Anterior segment dysgenesis 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374472 SCV002683708 likely benign Cardiovascular phenotype 2019-01-09 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.
GeneDx RCV002509349 SCV002818743 likely benign not provided 2021-05-05 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
CeGaT Center for Human Genetics Tuebingen RCV002509349 SCV004009843 benign not provided 2023-11-01 criteria provided, single submitter clinical testing FOXE3: BS1, BS2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000325906 SCV004038984 likely benign not specified 2023-08-10 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003485570 SCV004240697 benign Familial thoracic aortic aneurysm and aortic dissection 2023-01-25 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002509349 SCV004564711 likely benign not provided 2023-10-06 criteria provided, single submitter clinical testing

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