ClinVar Miner

Submissions for variant NM_005901.6(SMAD2):c.730+10del

dbSNP: rs149135973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002107584 SCV002396743 benign not provided 2021-04-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553724 SCV004770399 likely benign SMAD2-related disorder 2019-07-12 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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