ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*6586C>T

dbSNP: rs534182161
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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 RCV000364061 SCV000483703 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000271879 SCV000483704 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329337 SCV000483705 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing

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