ClinVar Miner

Submissions for variant NM_138348.6(OTULIN):c.119A>G (p.Gln40Arg)

gnomAD frequency: 0.00091  dbSNP: rs750815369
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001090990 SCV001246801 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001090990 SCV001660057 likely benign not provided 2025-01-29 criteria provided, single submitter clinical testing

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