ClinVar Miner

Submissions for variant NM_003533.3(H3C11):c.82A>G (p.Lys28Glu)

dbSNP: rs1057519905
Minimum review status: Collection method:
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Database of Curated Mutations (DoCM) RCV000441693 SCV000506470 likely pathogenic Squamous cell carcinoma of the head and neck 2016-05-31 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000420515 SCV000506471 likely pathogenic Brainstem glioma 2016-05-31 no assertion criteria provided literature only

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