ClinVar Miner

Submissions for variant NM_000142.4(FGFR3):c.739G>A (p.Glu247Lys) (rs565612580)

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Total submissions: 1

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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	RCV000415492	SCV000328406	uncertain significance	Crouzon syndrome with acanthosis nigricans	2016-10-20	criteria provided, single submitter	clinical testing

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