ClinVar Miner

Submissions for variant NM_006265.2(RAD21):c.145-4A>G (rs752213732)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650453 SCV000772298 benign Cornelia de Lange syndrome 4 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716670 SCV000847512 likely benign History of neurodevelopmental disorder 2017-04-14 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign)

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