ClinVar Miner

Submissions for variant NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) (rs786202724)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165679 SCV000216417 pathogenic Hereditary cancer-predisposing syndrome 2014-09-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Strong segregation with disease (lod >3 = >10 meioses),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Other data supporting pathogenic classification,In silico models in agreement (deleterious) and/or completely conserved position in appropriate species
Database of Curated Mutations (DoCM) RCV000443267 SCV000505274 likely pathogenic Carcinoma 2016-05-13 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000425188 SCV000505275 likely pathogenic Neoplasm 2014-12-26 no assertion criteria provided literature only
Mendelics RCV000709041 SCV000838271 pathogenic Renal cell carcinoma, papillary, 1 2018-07-02 criteria provided, single submitter clinical testing

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