ClinVar Miner

Submissions for variant NM_001378609.3(OTOGL):c.3010T>C (p.Leu1004=)

gnomAD frequency: 0.00116  dbSNP: rs182548010
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000896244 SCV001040326 benign not provided 2024-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000896244 SCV001790809 likely benign not provided 2021-06-04 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000896244 SCV005216149 likely benign not provided criteria provided, single submitter not provided

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