ClinVar Miner

Submissions for variant NM_000244.3(MEN1):c.1321T>C (p.Trp441Arg) (rs104894259)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491105 SCV000579635 pathogenic Hereditary cancer-predisposing syndrome 2013-02-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other strong data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Well-characterized mutation at same position,Deficient protein function in appropriate functional assay(s)

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