ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) (rs121913272)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 17
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154512 SCV000204183 pathogenic Neoplasm of ovary 2010-10-08 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000024623 SCV001736961 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526612 SCV001737042 pathogenic Capillary malformation criteria provided, single submitter clinical testing
Institute of Medical and Molecular Genetics,Hospital Universitario La Paz RCV001705599 SCV001934207 pathogenic Segmental undergrowth associated with lymphatic malformation 2021-04-06 criteria provided, single submitter clinical testing
OMIM RCV000024623 SCV000050489 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2012-06-08 no assertion criteria provided literature only
GeneReviews RCV000024623 SCV000086941 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 RCV000201232 SCV000255982 pathogenic PIK3CA related overgrowth spectrum 2014-04-23 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000439612 SCV000505477 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423306 SCV000505478 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433143 SCV000505479 likely pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444813 SCV000505480 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427443 SCV000505481 likely pathogenic Adenoid cystic carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434659 SCV000505482 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444019 SCV000505483 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
OMIM RCV000709694 SCV000839594 pathogenic Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 2012-06-08 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000154512 SCV000924133 likely pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research
MAGI's Lab - Research,MAGI Group RCV001327960 SCV001437636 pathogenic Abnormality of cardiovascular system morphology no assertion criteria provided provider interpretation

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.