ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln)

gnomAD frequency: 0.00024  dbSNP: rs754743917
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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 RCV001410368 SCV001612414 likely benign Axenfeld-Rieger syndrome type 3 2022-10-18 criteria provided, single submitter clinical testing
GeneDx RCV000960696 SCV001991192 uncertain significance not provided 2019-06-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 24823478, 30653986)
CeGaT Center for Human Genetics Tuebingen RCV000960696 SCV004158205 benign not provided 2023-06-01 criteria provided, single submitter clinical testing FOXC1: BS1, BS2

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