ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.8578-8C>T (rs182750732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000215021 SCV000269536 benign not specified 2015-05-28 criteria provided, single submitter clinical testing c.8578-8C>T in intron 54 of OTOG: This variant is not expected to have clinical significance because a C>T change at this position does not diverge from the spl ice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 0.5% (27/5570) of European chromosomes by the Exome Aggregation C onsortium (ExAC, http://exac.broadinstitute.org; dbSNP rs182750732).
GeneDx RCV000215021 SCV000718719 likely benign not specified 2017-09-27 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000215021 SCV000859393 likely benign not specified 2018-02-13 criteria provided, single submitter clinical testing
Invitae RCV000881811 SCV001025006 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000881811 SCV001144851 benign not provided 2018-09-12 criteria provided, single submitter clinical testing

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