ClinVar Miner

Submissions for variant NM_000142.5(FGFR3):c.1879G>A (p.Glu627Lys) (rs200849753)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Paul Sabatier University EA-4555, Paul Sabatier University RCV000207413 SCV000259141 likely benign Anophthalmia-microphthalmia syndrome 2013-01-01 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711636 SCV000842022 uncertain significance not provided 2018-06-13 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000711636 SCV001154149 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing

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