ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1308+2T>C

dbSNP: rs1555686624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662091 SCV000784430 pathogenic Generalized juvenile polyposis/juvenile polyposis coli 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662092 SCV000784431 pathogenic Myhre syndrome 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000662093 SCV000784432 pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2018-03-05 criteria provided, single submitter clinical testing

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