ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) (rs121918498)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000014201 SCV000328368 likely pathogenic Acrocephalosyndactyly type I 2016-09-17 criteria provided, single submitter clinical testing
OMIM RCV000014201 SCV000034449 pathogenic Acrocephalosyndactyly type I 1999-03-01 no assertion criteria provided literature only
GeneReviews RCV000014201 SCV000929989 pathogenic Acrocephalosyndactyly type I 2019-05-20 no assertion criteria provided literature only

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