ClinVar Miner

Submissions for variant NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln)

dbSNP: rs397516792
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000419962 SCV000506694 likely pathogenic Malignant melanoma of skin 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425396 SCV000506695 likely pathogenic Transitional cell carcinoma of the bladder 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000436127 SCV000506696 likely pathogenic Neoplasm of the large intestine 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000418888 SCV000506697 likely pathogenic Malignant neoplasm of body of uterus 2016-05-31 no assertion criteria provided literature only
OMIM RCV001078439 SCV001244681 pathogenic Cardiofaciocutaneous syndrome 3 2007-07-01 no assertion criteria provided literature only

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