ClinVar Miner

Submissions for variant NM_024408.4(NOTCH2):c.15C>G (p.Arg5=)

dbSNP: rs4021006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173523 SCV000224644 uncertain significance not provided 2017-02-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818409 SCV002071418 benign not specified 2021-06-28 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000173523 SCV001799224 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000173523 SCV001965252 likely benign not provided no assertion criteria provided clinical testing

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