ClinVar Miner

Submissions for variant NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) (rs144867876)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034764 SCV000290374 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000380627 SCV000372662 likely benign Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000433296 SCV000514595 likely benign not specified 2016-10-17 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.
Genetic Services Laboratory, University of Chicago RCV000433296 SCV000596997 likely benign not specified 2017-04-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000563333 SCV000675038 likely benign Hereditary cancer-predisposing syndrome 2017-08-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034764 SCV000043483 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.

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