ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1468G>C (p.Gly490Arg) (rs869025670)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000208875 SCV000264787 pathogenic Hartsfield syndrome 2016-01-06 no assertion criteria provided literature only
Laboratory of Molecular Genetics,CHU RENNES RCV000208875 SCV000268729 likely pathogenic Hartsfield syndrome 2016-04-13 no assertion criteria provided clinical testing

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