ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)

dbSNP: rs1057519938
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital RCV002051723 SCV001950190 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome; Noonan syndrome 8 2021-09-30 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000438272 SCV000507051 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417579 SCV000507052 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428271 SCV000507053 likely pathogenic Uterine carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438925 SCV000507054 likely pathogenic Adenoid cystic carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421685 SCV000507055 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428856 SCV000507056 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439528 SCV000507057 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422347 SCV000507058 likely pathogenic Prostate adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433058 SCV000507059 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444032 SCV000507060 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only

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