ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) (rs73418068)

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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 RCV000222226 SCV000269478 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg611Arg in exon 16 of OTOG: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 5.2% (10/194) of Luh ya (Kenyan) chromosomes from a broad population by the 1000 Genomes Project (htt p://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs73418068).
GeneDx RCV000826984 SCV000968591 likely benign not provided 2018-05-17 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 RCV000826984 SCV001032726 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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