ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del)

dbSNP: rs398123612
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735057 SCV000863247 likely benign not specified 2018-09-11 criteria provided, single submitter clinical testing
GeneDx RCV000872001 SCV001782870 likely benign not provided 2020-05-19 criteria provided, single submitter clinical testing In-frame deletion in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002061022 SCV002378607 likely benign Axenfeld-Rieger syndrome type 3 2022-10-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000872001 SCV004700753 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing FOXC1: BS1
PreventionGenetics, part of Exact Sciences RCV003892679 SCV004711192 benign FOXC1-related disorder 2019-10-31 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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