ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.249+9T>C

gnomAD frequency: 0.00001  dbSNP: rs770523387
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409145 SCV000489523 likely benign Generalized juvenile polyposis/juvenile polyposis coli 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV001420974 SCV001083824 likely benign Juvenile polyposis syndrome 2023-03-31 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003316514 SCV004017817 likely benign Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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