ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys) (rs121918499)

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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 RCV000014203 SCV000328380 pathogenic Pfeiffer syndrome 2016-09-17 criteria provided, single submitter clinical testing
OMIM RCV000014203 SCV000034451 pathogenic Pfeiffer syndrome 1997-05-01 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419759 SCV000505174 likely pathogenic Squamous cell lung carcinoma 2014-12-26 no assertion criteria provided literature only

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