ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.207-26869C>A

gnomAD frequency: 0.00006  dbSNP: rs958007552
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000433124 SCV000523778 likely benign not specified 2016-01-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000433124 SCV000740521 uncertain significance not specified 2017-07-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539828 SCV004782133 likely benign SMAD3-related disorder 2021-05-08 no assertion criteria provided 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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