ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys) (rs1057519929)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526599 SCV001737028 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000426861 SCV000506921 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436699 SCV000506922 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419439 SCV000506923 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431022 SCV000506924 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438199 SCV000506925 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420013 SCV000506926 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430702 SCV000506927 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438786 SCV000506928 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418157 SCV000506929 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
MAGI's Lab - Research,MAGI Group RCV001327958 SCV001437634 pathogenic Abnormality of cardiovascular system morphology no assertion criteria provided provider interpretation
Genomics England Pilot Project,Genomics England RCV001542570 SCV001760113 likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome no assertion criteria provided clinical testing

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