ClinVar Miner

Submissions for variant NM_138348.6(OTULIN):c.405G>C (p.Leu135=)

gnomAD frequency: 0.00302  dbSNP: rs115519180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518895 SCV001727671 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001518895 SCV005299124 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001518895 SCV001932986 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001518895 SCV001970246 likely benign not provided no assertion criteria provided clinical testing

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