ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.746A>C (p.Gln249Pro)

gnomAD frequency: 0.00010  dbSNP: rs371536364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000939632 SCV001085481 likely benign Juvenile polyposis syndrome 2019-05-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258060 SCV002538344 likely benign Hereditary cancer-predisposing syndrome 2021-08-04 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003933205 SCV004759941 likely benign SMAD4-related condition 2020-07-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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