ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) (rs61734214)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000430647 SCV000511363 likely benign not provided 2016-07-22 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000218557 SCV000269483 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Gly850Arg in exon 20 of OTOG: This variant is not expected to have clinical significance because it has been identified in 6.7% (13/194) of Luhya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs61734214).

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