ClinVar Miner

Submissions for variant NM_000245.3(MET):c.967A>G (p.Ser323Gly) (rs201467281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563453 SCV000673684 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034535 SCV000043296 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
GeneDx RCV000599960 SCV000714695 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000123136 SCV000166438 benign Renal cell carcinoma, papillary, 1 2018-01-10 criteria provided, single submitter clinical testing
Mendelics RCV000123136 SCV000838243 uncertain significance Renal cell carcinoma, papillary, 1 2018-07-02 criteria provided, single submitter clinical testing

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