ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1448-6T>C

dbSNP: rs1085307437
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001045558 SCV001209418 likely benign Juvenile polyposis syndrome 2024-01-27 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488790 SCV000576363 uncertain significance Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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