ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) (rs779707422)

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Total submissions: 8
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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
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 Adenocarcinoma of stomach 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

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