ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1495G>A (p.Gly499Arg)

dbSNP: rs759552236
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262823 SCV001440831 uncertain significance Hartsfield-Bixler-Demyer syndrome 2019-01-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486008 SCV002792832 uncertain significance Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis 2021-07-13 criteria provided, single submitter clinical testing

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