ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.*1169_*1173del

gnomAD frequency: 0.00832  dbSNP: rs138404813
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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 RCV000332824 SCV000409144 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389730 SCV000409145 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000292335 SCV000409146 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing

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