ClinVar Miner

Submissions for variant NM_001292063.2(OTOG):c.5919G>A (p.Thr1973=)

gnomAD frequency: 0.00014  dbSNP: rs570611759
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000933963 SCV001079673 benign not provided 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV000933963 SCV001942573 benign not provided 2021-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000933963 SCV004136064 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing OTOG: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003903103 SCV004722974 benign OTOG-related condition 2019-06-15 criteria provided, single submitter 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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