ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.455-6A>G (rs181178864)

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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000153972 SCV000171763 benign not specified 2014-02-14 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153972 SCV000203597 benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Invitae RCV000759347 SCV000262403 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343024 SCV000409090 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392682 SCV000409091 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303525 SCV000409092 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000153972 SCV000602195 likely benign not specified 2017-04-19 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000153972 SCV000605221 benign not specified 2016-09-04 criteria provided, single submitter clinical testing
Color RCV000580717 SCV000686540 benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153972 SCV000806700 benign not specified 2017-12-20 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759347 SCV000888626 benign not provided 2018-05-24 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000153972 SCV000692028 benign not specified no assertion criteria provided clinical testing

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