ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*5546_*5547insGCACAC (rs1555688055)

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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 RCV000397552 SCV000409357 uncertain significance Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279019 SCV000409358 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336417 SCV000409359 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing

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