ClinVar Miner

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

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Total submissions: 13
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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
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 Neoplasm of the breast 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 RCV000785561 SCV000924133 likely pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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