ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.5266-7T>C

gnomAD frequency: 0.02098  dbSNP: rs79120261
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000216973 SCV000269568 benign not specified 2014-11-24 criteria provided, single submitter clinical testing 5239-7T>C in intron 43 of OTOGL: This variant is not expected to have clinical s ignificance because it has been identified in 3.3% (268/8158) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs79120261).
GeneDx RCV000216973 SCV000717940 benign not specified 2017-09-08 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 RCV000712492 SCV000842994 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000712492 SCV002445875 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712492 SCV005231920 benign not provided criteria provided, single submitter not provided

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