ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.5617C>A (p.Pro1873Thr)

gnomAD frequency: 0.00098  dbSNP: rs141867785
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Total submissions: 2
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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 RCV000213302 SCV000269573 benign not specified 2015-07-21 criteria provided, single submitter clinical testing p.Pro1864Thr in exon 46 of OTOGL: This variant is not expected to have clinical significance because it has been identified in 0.4% (37/9782) of African chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs141867785).
Labcorp Genetics (formerly Invitae), Labcorp RCV000911201 SCV001056259 likely benign not provided 2023-10-23 criteria provided, single submitter clinical testing

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