ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu)

gnomAD frequency: 0.00210  dbSNP: rs540794663
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000239199 SCV000297097 uncertain significance not specified 2015-11-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000897249 SCV001041385 benign not provided 2024-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000897249 SCV001812388 likely benign not provided 2021-03-25 criteria provided, single submitter clinical testing
New York Genome Center RCV001254959 SCV001431043 uncertain significance Hearing impairment 2020-01-23 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947811 SCV004765163 benign OTOG-related disorder 2019-11-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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