ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) (rs121913279)

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Total submissions: 42
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab Rare Disease,National Institutes of Health RCV000201231 SCV000898478 pathogenic PIK3CA related overgrowth spectrum 2019-04-19 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000432506 SCV000504107 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442164 SCV000504108 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425956 SCV000504109 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436234 SCV000504110 pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000014627 SCV000504111 pathogenic Non-small cell lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426498 SCV000504112 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437153 SCV000504113 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419938 SCV000504114 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430589 SCV000504115 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437782 SCV000504116 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420562 SCV000504117 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431232 SCV000504118 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438435 SCV000504119 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421225 SCV000504120 pathogenic Ovarian Neoplasms 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428372 SCV000504121 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000014626 SCV000504122 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421855 SCV000504123 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432543 SCV000504124 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442736 SCV000504125 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422442 SCV000504126 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433127 SCV000504127 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443546 SCV000504128 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426614 SCV000504129 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437287 SCV000504130 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442731 SCV000504131 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Donald Williams Parsons Laboratory,Baylor College of Medicine RCV000487449 SCV000292259 pathogenic Rosette-forming glioneuronal tumor criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000024621 SCV000803841 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi criteria provided, single submitter clinical testing
GeneReviews RCV000024621 SCV000086944 pathologic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2013-08-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Genomics and Pathology Services,Washington University in St.Louis RCV000201231 SCV000255984 pathogenic PIK3CA related overgrowth spectrum 2015-04-01 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000421225 SCV000923968 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000014627 SCV000199905 pathogenic Non-small cell lung cancer 2010-08-05 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000154516 SCV000204187 pathogenic Neoplasm of ovary 2010-08-05 no assertion criteria provided clinical testing
OMIM RCV000014622 SCV000034877 pathogenic Breast adenocarcinoma 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014623 SCV000034878 pathogenic Ovarian epithelial cancer 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014624 SCV000034879 pathogenic Carcinoma of colon 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014625 SCV000034880 pathogenic Neoplasm of stomach 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014626 SCV000034881 pathogenic Hepatocellular carcinoma 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014627 SCV000034882 pathogenic Non-small cell lung cancer 2012-06-24 no assertion criteria provided literature only
OMIM RCV000014628 SCV000034883 pathogenic Keratosis, seborrheic 2012-06-24 no assertion criteria provided literature only
OMIM RCV000024621 SCV000050487 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2012-06-24 no assertion criteria provided literature only
OMIM RCV000709691 SCV000839591 pathogenic MACRODACTYLY, SOMATIC 2012-06-24 no assertion criteria provided literature only

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