ClinVar Miner

Submissions for variant NM_000141.4(FGFR2):c.866A>C (p.Gln289Pro) (rs121918497)

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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 RCV000415509 SCV000328375 pathogenic Pfeiffer syndrome 2016-09-17 criteria provided, single submitter clinical testing
OMIM RCV000014196 SCV000034444 pathogenic Crouzon syndrome 1996-03-01 no assertion criteria provided literature only
OMIM RCV000014197 SCV000034445 pathogenic Jackson-Weiss syndrome 1996-03-01 no assertion criteria provided literature only

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