ClinVar Miner

Submissions for variant NM_000455.4(STK11):c.488G>A (p.Gly163Asp) (rs137853078)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492740 SCV000580887 pathogenic Hereditary cancer-predisposing syndrome 2012-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Well-characterized mutation at same position
OMIM RCV000007874 SCV000028079 pathogenic Malignant tumor of testis 1999-01-01 no assertion criteria provided literature only

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