ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.-476C>A (rs886053887)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000286044 SCV000409060 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000322289 SCV000409061 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377038 SCV000409062 uncertain significance Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing

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