ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1269A>C (p.Gly423=)

dbSNP: rs1052676207
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000986025 SCV001134823 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing
Invitae RCV002067571 SCV002353208 likely benign Juvenile polyposis syndrome 2023-05-05 criteria provided, single submitter clinical testing

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