ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.112C>T (p.Arg38Cys)

dbSNP: rs749415085
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001861480 SCV002223675 uncertain significance Cowden syndrome 2021-09-02 criteria provided, single submitter clinical testing
Database of Curated Mutations (DoCM) RCV000425934 SCV000507090 likely pathogenic Squamous cell lung carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436615 SCV000507091 likely pathogenic Glioblastoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419353 SCV000507092 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430080 SCV000507093 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000440934 SCV000507094 likely pathogenic Gastric adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420206 SCV000507095 likely pathogenic Neoplasm of uterine cervix 2016-05-31 no assertion criteria provided literature only
Genome Sciences Centre, British Columbia Cancer Agency RCV001789775 SCV000693729 likely pathogenic Colorectal cancer 2016-07-11 no assertion criteria provided research

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