ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.354G>A (p.Ala118=) (rs145988618)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000679589 SCV000605224 benign not provided 2017-05-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617129 SCV000212976 likely benign Cardiovascular phenotype 2014-07-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000679589 SCV000892508 likely benign not provided 2018-09-30 criteria provided, single submitter clinical testing
Color RCV000128170 SCV000686537 likely benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing
GeneDx RCV000213003 SCV000171762 benign not specified 2014-01-08 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.
Illumina Clinical Services Laboratory,Illumina RCV000349756 SCV000409084 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385577 SCV000409085 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000291347 SCV000409086 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000021679 SCV000153894 benign Juvenile polyposis syndrome 2018-01-15 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000213003 SCV000692027 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000679589 SCV000806699 likely benign not provided 2016-07-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213003 SCV000602193 likely benign not specified 2017-05-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679589 SCV000888625 benign not provided 2018-04-07 criteria provided, single submitter clinical testing
Research and Development, ARUP Laboratories RCV000021679 SCV000042345 benign Juvenile polyposis syndrome 2012-12-04 no assertion criteria provided clinical testing Converted during submission to Benign.
True Health Diagnostics RCV000128170 SCV000788213 likely benign Hereditary cancer-predisposing syndrome 2017-12-08 no assertion criteria provided clinical testing

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