ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.5864C>T (p.Thr1955Met) (rs75677194)

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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 RCV000221802 SCV000269515 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Thr1955Met in exon 35 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 3.4% (6/176) of Yoruba (Nigerian) ch romosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.n lm.nih.gov/projects/SNP; dbSNP rs75677194).
GeneDx RCV000221802 SCV000728196 likely benign not specified 2018-03-12 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 RCV000965165 SCV001112426 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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