ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3444+15C>T (rs7936484)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219166 SCV000269500 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 3444+15C>T in intron 27 of OTOG: This variant is not expected to have clinical s ignificance because it is not located within the conserved splice consensus sequ ence. It has been identified in 21.5% (43/200) of Han Chinese chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/proje cts/SNP; dbSNP rs7936484).
GeneDx RCV000843111 SCV000985144 benign not provided 2018-06-16 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000219166 SCV001743811 benign not specified no assertion criteria provided clinical testing

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