ClinVar Miner

Submissions for variant NM_147127.5(EVC2):c.1711-11_1711-10dup

dbSNP: rs35103377
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000514647 SCV000225716 uncertain significance not provided 2014-10-02 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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
Labcorp Genetics (formerly Invitae), Labcorp RCV000526472 SCV000634695 benign Ellis-van Creveld syndrome; Curry-Hall syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000514647 SCV001894980 benign not provided 2019-08-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001706566 SCV001926637 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001706566 SCV001964349 benign not specified no assertion criteria provided clinical testing

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