ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-20_1711-19dup (rs35103377)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000514647 SCV000225716 uncertain significance not provided 2014-10-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281739 SCV000450085 uncertain significance Ellis-van Creveld syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514647 SCV000609690 likely benign not provided 2017-04-28 criteria provided, single submitter clinical testing
Invitae RCV000526472 SCV000634695 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2019-12-31 criteria provided, single submitter clinical testing

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