ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) (rs11554273)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017287 SCV000037559 pathogenic McCune-Albright syndrome 2014-05-23 no assertion criteria provided literature only
OMIM RCV000017289 SCV000037561 pathogenic Sex cord-stromal tumor 2014-05-23 no assertion criteria provided literature only
OMIM RCV000133503 SCV000188577 pathogenic Cushing's syndrome 2014-05-23 no assertion criteria provided literature only
GeneReviews RCV000017287 SCV000246254 pathogenic McCune-Albright syndrome 2015-01-07 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420084 SCV000505260 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429524 SCV000506432 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439728 SCV000506433 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000422043 SCV000506434 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000432295 SCV000506435 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000444862 SCV000506436 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421422 SCV000506437 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000431495 SCV000506438 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443647 SCV000506439 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000427542 SCV000506440 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437784 SCV000506441 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
OMIM RCV000508635 SCV000605824 pathogenic PITUITARY ADENOMA 3, MULTIPLE TYPES 2014-05-23 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000017287 SCV000804872 pathogenic McCune-Albright syndrome 2014-02-14 no assertion criteria provided clinical testing

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