ClinVar Miner

Submissions for variant NM_001077488.4(GNAS):c.605G>A (p.Arg202His) (rs121913495)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000017290 SCV000037562 pathogenic McCune-Albright syndrome 2014-05-23 no assertion criteria provided literature only
OMIM RCV000017292 SCV000037564 pathogenic Cushing's syndrome 2014-05-23 no assertion criteria provided literature only
OMIM RCV000017293 SCV000037565 pathogenic Sex cord-stromal tumor 2014-05-23 no assertion criteria provided literature only
GeneReviews RCV000017290 SCV000246257 pathogenic McCune-Albright syndrome 2015-01-07 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000430768 SCV000505261 likely pathogenic Neoplasm 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000443822 SCV000506442 likely pathogenic Neoplasm of the breast 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000426918 SCV000506443 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000437187 SCV000506444 likely pathogenic Uterine cervical neoplasms 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000419515 SCV000506445 likely pathogenic Adenocarcinoma of stomach 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000429798 SCV000506446 likely pathogenic Pancreatic adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436559 SCV000506447 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418739 SCV000506448 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000428995 SCV000506449 likely pathogenic Hepatocellular carcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000439229 SCV000506450 likely pathogenic Lung adenocarcinoma 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000421581 SCV000506451 likely pathogenic Adrenocortical carcinoma 2016-05-31 no assertion criteria provided literature only
OMIM RCV000508670 SCV000605825 pathogenic PITUITARY ADENOMA 3, MULTIPLE TYPES 2014-05-23 no assertion criteria provided literature only

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