ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) (rs138108344)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146996 SCV000194333 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418701 SCV000510824 benign not provided 2016-09-15 criteria provided, single submitter clinical testing
GeneDx RCV000146996 SCV000514008 benign not specified 2015-07-30 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 RCV000716916 SCV000847761 benign History of neurodevelopmental disorder 2016-09-06 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;In silico models in agreement (benign);Co-occurence with a mutation in another gene that clearly explains a proband's phenotype
Invitae RCV000418701 SCV001019966 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000605251 SCV000734792 likely benign Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance no assertion criteria provided clinical testing

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