ClinVar Miner

Submissions for variant NM_194248.3(OTOF):c.2215-77T>G (rs76130130)

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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 RCV000041486 SCV000065289 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ile23Ser in Exon 01 of OTOF: This variant is not expected to have clinical signi ficance because it has been identified in 0.5% (22/4104) of European American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http://; dbSNP rs76130130).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041486 SCV000333084 benign not specified 2016-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000041486 SCV000718004 likely benign not specified 2017-09-07 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.
Athena Diagnostics Inc RCV000992469 SCV001144811 benign not provided 2019-08-05 criteria provided, single submitter clinical testing

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