ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.7571G>A (p.Arg2524His) (rs114242958)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000222561 SCV000269524 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Arg2524His in exon 44 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 13.6% (24/176) of Yoruba (Nigerian) chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi .nlm.nih.gov/projects/SNP; dbSNP rs114242958).
GeneDx RCV000222561 SCV000723946 benign not specified 2017-10-23 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 RCV000956914 SCV001103706 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000956914 SCV001144848 benign not provided 2018-08-31 criteria provided, single submitter clinical testing

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