ClinVar Miner

Submissions for variant NM_000141.5(FGFR2):c.1735C>T (p.Arg579Trp)

dbSNP: rs1564875549
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485833 SCV002779338 uncertain significance 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; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer 2022-05-17 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722571 SCV000853702 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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