ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) (rs1057519044)

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Total submissions: 2
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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 RCV000415513 SCV000328387 pathogenic Crouzon syndrome 2016-09-17 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762802 SCV000893152 likely pathogenic Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation; Neoplasm of stomach; Bent bone dysplasia syndrome 2018-10-31 criteria provided, single submitter clinical testing

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