ClinVar Miner

Submissions for variant NM_005445.4(SMC3):c.724-6dup

dbSNP: rs11380915
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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 RCV000147601 SCV000195050 benign not specified 2013-03-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000147601 SCV000311078 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000329952 SCV000360301 benign De Lange syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001618302 SCV001847026 benign not provided 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV002055932 SCV002488874 benign Cornelia de Lange syndrome 3 2024-02-01 criteria provided, single submitter clinical testing

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