ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.289G>T (p.Gly97Cys) (rs1260404537)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000850554 SCV000992767 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2012-06-28 criteria provided, single submitter clinical testing

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