ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) (rs121913279)

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Total submissions: 35
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626894 SCV000747597 pathogenic Macrodactyly of toe; Stroke 2017-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000987367 SCV001136646 pathogenic Cowden syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253236 SCV001428854 pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome 2018-11-07 criteria provided, single submitter clinical testing This variant was identified as de novo
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001526597 SCV001737026 pathogenic Hemihypertrophy criteria provided, single submitter clinical testing
OMIM RCV000014629 SCV000034884 pathogenic Breast adenocarcinoma 2012-06-24 no assertion criteria provided literature only
OMIM RCV000032905 SCV000056677 pathogenic Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 2012-06-24 no assertion criteria provided literature only
GeneReviews RCV000032905 SCV000086945 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 RCV000201235 SCV000255986 pathogenic PIK3CA related overgrowth spectrum 2014-11-25 no assertion criteria provided clinical testing
Database of Curated Mutations (DoCM) RCV000427278 SCV000504132 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000438270 SCV000504133 pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000417557 SCV000504134 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428229 SCV000504135 pathogenic Non-small cell lung carcinoma 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435425 SCV000504136 likely pathogenic Ovarian Serous Cystadenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418190 SCV000504137 likely pathogenic Medulloblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428866 SCV000504138 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439524 SCV000504139 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422323 SCV000504140 pathogenic Neoplasm of ovary 2014-10-02 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429614 SCV000504141 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440269 SCV000504142 pathogenic Breast neoplasm 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423048 SCV000504143 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000433765 SCV000504144 likely pathogenic Uterine Carcinosarcoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443510 SCV000504145 likely pathogenic Neoplasm of brain 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000423706 SCV000504146 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434398 SCV000504147 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443341 SCV000504148 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427664 SCV000504149 likely pathogenic Carcinoma of esophagus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434874 SCV000504150 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000442340 SCV000504151 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000424813 SCV000504152 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000435543 SCV000504153 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418315 SCV000504154 likely pathogenic Adenocarcinoma of prostate 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425496 SCV000504155 likely pathogenic Renal cell carcinoma, papillary, 1 2016-05-31 no assertion criteria provided literature only
OMIM RCV000709692 SCV000839592 pathogenic Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth 2012-06-24 no assertion criteria provided literature only
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000422323 SCV000923937 pathogenic Neoplasm of ovary 2018-12-01 no assertion criteria provided research
OMIM RCV001728092 SCV001976536 pathogenic CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC 2012-06-24 no assertion criteria provided literature only

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