ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.4199+5_4199+8del

dbSNP: rs1887509535
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002184504 SCV002482587 likely benign not provided 2023-11-13 criteria provided, single submitter clinical testing
GeneDx RCV002184504 SCV003932972 likely pathogenic not provided 2024-10-01 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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