ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.*5576C>G

gnomAD frequency: 0.00010  dbSNP: rs886053930
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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 RCV000290234 SCV000409378 uncertain significance Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000345230 SCV000409379 uncertain significance Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000397128 SCV000409380 uncertain significance Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing

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