ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.*6588C>G

gnomAD frequency: 0.00003  dbSNP: rs186324049
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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 RCV000386254 SCV000483706 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274645 SCV000483707 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000332033 SCV000483708 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing

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