ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.*5004_*5005dup

dbSNP: rs113155703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000380932 SCV000409288 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000288742 SCV000409289 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000327515 SCV000409290 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing

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