ClinVar Miner

Submissions for variant NM_005445.3(SMC3):c.2644+6T>A (rs201281088)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000422046 SCV000511577 likely benign not provided 2017-01-24 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Genetic Services Laboratory, University of Chicago RCV000147591 SCV000195040 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing
Invitae RCV000641658 SCV000763303 benign Cornelia de Lange syndrome 3 2017-12-26 criteria provided, single submitter clinical testing

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