ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2597+14G>A (rs4756902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000216507 SCV000269485 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 2597+14G>A in intron 20 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 43.3% (77/178) of English and Scottish chromosom es from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih. gov/projects/SNP; dbSNP rs4756902).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000216507 SCV001744794 benign not specified no assertion criteria provided clinical testing

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