ClinVar Miner

Submissions for variant NM_006265.3(RAD21):c.815-5del

dbSNP: rs35902828
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000624963 SCV000743201 likely benign Cornelia de Lange syndrome 4 2016-01-13 criteria provided, single submitter clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000624963 SCV000744243 likely benign Cornelia de Lange syndrome 4 2015-12-22 criteria provided, single submitter clinical testing
GeneDx RCV001573335 SCV001945727 benign not provided 2019-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000624963 SCV002407165 benign Cornelia de Lange syndrome 4 2024-11-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002491340 SCV002796706 benign Mungan syndrome; Cornelia de Lange syndrome 4 2021-10-05 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573335 SCV001799051 likely benign not provided no assertion criteria provided clinical testing

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