ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4213T>C (p.Leu1405=)

gnomAD frequency: 0.00945  dbSNP: rs114661503
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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 RCV000222184 SCV000269561 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Leu1396Leu in exon 35 of OTOGL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 2.3% (87/3710) of African American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs114661503).
GeneDx RCV000839946 SCV000981859 benign not provided 2019-05-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000839946 SCV001114660 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000222184 SCV001476595 benign not specified 2019-10-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000839946 SCV005231912 benign not provided criteria provided, single submitter not provided

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