ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.3298-3dup

dbSNP: rs750133429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002127304 SCV002410680 benign Cornelia de Lange syndrome 3 2023-09-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951119 SCV004761733 likely benign SMC3-related disorder 2019-10-16 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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