ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) (rs121909633)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502492 SCV000594770 uncertain significance not specified 2016-03-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514891 SCV000610054 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000766015 SCV000897452 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2018-10-31 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000502492 SCV000930355 uncertain significance not specified 2019-04-27 criteria provided, single submitter clinical testing
OMIM RCV000017681 SCV000037958 pathogenic Trigonocephaly 1 2005-05-01 no assertion criteria provided literature only

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