ClinVar Miner

Submissions for variant NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) (rs79691946)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153259 SCV000202734 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV001087974 SCV000647087 benign Axenfeld-Rieger syndrome type 3 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000023070 SCV000044361 pathogenic Anterior segment dysgenesis 3 2009-09-01 no assertion criteria provided literature only
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University RCV000162086 SCV000212085 pathogenic not provided no assertion criteria provided not provided Converted during submission to Pathogenic.

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