ClinVar Miner

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

gnomAD frequency: 0.03108  dbSNP: rs79691946
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153259 SCV000202734 benign not specified 2016-03-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001087974 SCV000647087 benign Axenfeld-Rieger syndrome type 3 2024-01-30 criteria provided, single submitter clinical testing
GeneDx RCV000162086 SCV001869205 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27884173, 17197537, 25093829, 21423868, 19626132, 19793056)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV000153259 SCV001984203 benign not specified 2020-03-23 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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