ClinVar Miner

Submissions for variant NM_001277269.1(OTOG):c.3386C>T (p.Pro1129Leu) (rs7936354)

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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 RCV000221180 SCV000269498 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro1129Leu in exon 27 of OTOG: This variant is not expected to have clinical sig nificance because it has been identified in 15.5% (30/194) of Luhya (Kenyan) chr omosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nl m.nih.gov/projects/SNP; dbSNP rs7936354).
GeneDx RCV000221180 SCV000717795 benign not specified 2017-10-05 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.
Athena Diagnostics Inc RCV000712483 SCV000842984 benign not provided 2018-05-23 criteria provided, single submitter clinical testing
Invitae RCV000712483 SCV001113116 benign not provided 2020-11-23 criteria provided, single submitter clinical testing

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