ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.2644+6T>A

gnomAD frequency: 0.00359  dbSNP: rs201281088
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147591 SCV000195040 likely benign not specified 2014-12-19 criteria provided, single submitter clinical testing
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.
Invitae RCV001087311 SCV000763303 benign Cornelia de Lange syndrome 3 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000422046 SCV001754124 likely benign not provided 2020-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001087311 SCV002803375 likely benign Cornelia de Lange syndrome 3 2021-10-13 criteria provided, single submitter clinical testing

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