ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1032+9C>A (rs147843540)

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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 RCV000221042 SCV000269472 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 1032+9C>A in intron 8 of OTOG: This variant is not expected to have clinical sig nificance because it is not located within the conserved splice consensus sequen ce. It has been identified in 1.5% (11/758) of European chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SN P; dbSNP rs147843540).
GeneDx RCV000221042 SCV000718785 likely benign not specified 2017-11-03 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 RCV000957895 SCV001104716 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000957895 SCV001144830 benign not provided 2019-07-26 criteria provided, single submitter clinical testing

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