ClinVar Miner

Submissions for variant NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) (rs869320694)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210479 SCV000266575 pathogenic Encephalocraniocutaneous lipomatosis 2016-08-11 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420160 SCV000506342 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430840 SCV000506343 likely pathogenic Astrocytoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441552 SCV000506344 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420790 SCV000506345 likely pathogenic Lymphoblastic leukemia, acute, with lymphomatous features 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428027 SCV000506346 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438709 SCV000506347 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics,University of Washington RCV000210479 SCV000882923 likely pathogenic Encephalocraniocutaneous lipomatosis 2017-05-25 no assertion criteria provided research

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