ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) (rs140743238)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115884 SCV000185945 likely benign Hereditary cancer-predisposing syndrome 2017-09-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification,Other data supporting benign classification,Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034711 SCV000043500 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Color RCV000115884 SCV000910626 likely benign Hereditary cancer-predisposing syndrome 2016-05-27 criteria provided, single submitter clinical testing
Counsyl RCV000196842 SCV000487981 uncertain significance Juvenile polyposis syndrome 2015-12-09 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000034711 SCV000333810 uncertain significance not provided 2018-04-06 criteria provided, single submitter clinical testing
GeneDx RCV000122057 SCV000149793 likely benign not specified 2017-11-08 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.
ITMI RCV000122057 SCV000086268 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000034711 SCV000698577 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Invitae RCV000196842 SCV000253436 likely benign Juvenile polyposis syndrome 2017-12-24 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000122057 SCV000692029 uncertain significance not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000034711 SCV000806702 likely benign not provided 2017-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000122057 SCV000602196 likely benign not specified 2017-04-17 criteria provided, single submitter clinical testing

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