ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*5535A>G (rs75712226)

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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 RCV000346092 SCV000409336 benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393370 SCV000409337 benign Hereditary hemorrhagic telangiectasia type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282968 SCV000409338 benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing

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