ClinVar Miner

Submissions for variant NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)

dbSNP: rs779707422
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Donald Williams Parsons Laboratory, Baylor College of Medicine RCV000487433 SCV000292258 pathogenic Rosette-forming glioneuronal tumor criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000210485 SCV001736964 pathogenic Encephalocraniocutaneous lipomatosis criteria provided, single submitter clinical testing
OMIM RCV000210485 SCV000266574 pathogenic Encephalocraniocutaneous lipomatosis 2016-08-11 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428878 SCV000506366 likely pathogenic Neuroblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439566 SCV000506367 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422315 SCV000506368 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429528 SCV000506369 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440238 SCV000506370 likely pathogenic Astrocytoma 2016-05-31 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000210485 SCV000882922 likely pathogenic Encephalocraniocutaneous lipomatosis 2017-05-25 no assertion criteria provided research
GeneReviews RCV000210485 SCV002099545 not provided Encephalocraniocutaneous lipomatosis no assertion provided literature only

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