ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.756_758delinsCTT (p.Pro253Phe) (rs387907372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuven RCV000049281 SCV000077539 pathogenic Acrocephalosyndactyly type I no assertion criteria provided not provided Converted during submission to Pathogenic.
GeneReviews RCV000049281 SCV000929991 pathogenic Acrocephalosyndactyly type I 2019-05-20 no assertion criteria provided literature only

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