ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*1812T>G (rs557065270)

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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 RCV000399674 SCV000409171 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000300434 SCV000409172 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000334397 SCV000409173 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing

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