ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) (rs143713841)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000080019 SCV000111913 uncertain significance not provided 2014-08-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000146990 SCV000194327 benign not specified 2019-06-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000080019 SCV000281540 likely benign not provided 2016-02-18 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000146990 SCV000514009 benign not specified 2015-09-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000721018 SCV000851902 benign History of neurodevelopmental disorder 2017-08-18 criteria provided, single submitter clinical testing In silico models in agreement (benign);General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000080019 SCV001013639 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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