ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2215-80T>C (rs143141993)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041485 SCV000065180 benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Leu22Pro in exon 1A of OTOF: This variant is not expected to have clinical sig nificance because it has been identified in 0.5% (130/28336) of European chromos omes by the Exome Aggregation Consortium (http://exac.broadinstitute.org/; dbSNP rs143141993).
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000041485 SCV000258277 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000731859 SCV000859715 uncertain significance not provided 2018-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000731859 SCV000982986 likely benign not provided 2018-03-26 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.

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