ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) (rs121913273)

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Total submissions: 25
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000024622 SCV000050488 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2012-06-08 no assertion criteria provided literature only
GeneReviews RCV000024622 SCV000086942 pathologic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2013-08-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000151649 SCV000199901 pathogenic Neoplasm of ovary 2011-10-12 no assertion criteria provided clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000154513 SCV000204184 pathogenic Non-small cell lung cancer 2011-10-12 no assertion criteria provided clinical testing
Department of Medical Genetics,University of Szeged RCV000416776 SCV000258982 pathogenic not provided 2015-09-01 no assertion criteria provided case-control
Database of Curated Mutations (DoCM) RCV000154513 SCV000503916 pathogenic Non-small cell lung cancer 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421639 SCV000503917 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431872 SCV000503918 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442348 SCV000503919 pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424422 SCV000503920 pathogenic Ovarian Neoplasms 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433007 SCV000503921 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000445059 SCV000503922 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425548 SCV000503923 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435811 SCV000503924 likely pathogenic Papillary renal cell carcinoma, sporadic 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419905 SCV000503925 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426691 SCV000503926 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436932 SCV000503927 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419440 SCV000503928 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431000 SCV000503929 likely pathogenic Small cell lung cancer 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000441707 SCV000503930 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420078 SCV000503931 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430763 SCV000503932 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438815 SCV000503933 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
OMIM RCV000709693 SCV000839593 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 RCV000424422 SCV000923935 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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