ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) (rs148262378)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000146988 SCV000111912 likely benign not specified 2013-09-26 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000146988 SCV000194325 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224669 SCV000281564 likely benign not provided 2015-06-05 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Athena Diagnostics Inc RCV000224669 SCV000842972 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715499 SCV000846328 benign History of neurodevelopmental disorder 2017-09-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Does not segregate with disease in family study (genes with incomplete penetrance);Other data supporting benign classification
GeneDx RCV000224669 SCV000983672 likely benign not provided 2018-04-09 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.
Invitae RCV000224669 SCV001013202 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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