ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3710G>A (p.Arg1237His) (rs116947228)

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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 RCV000223037 SCV000269504 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg1237His in exon 29 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 10.1% (18/178) of Japanese chromosom es from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih. gov/projects/SNP; dbSNP rs116947228).
GeneDx RCV000223037 SCV000722383 benign not specified 2017-08-22 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 RCV000949967 SCV001096244 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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