ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.*6158GATT[1]

dbSNP: rs886053936
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000397546 SCV000409420 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000285795 SCV000409421 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000340717 SCV000409422 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221921 SCV003918015 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing SMAD4: BS1

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