ClinVar Miner

Submissions for variant NM_016023.5(OTUD6B):c.316-1622G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134717 SCV003816555 uncertain significance Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 2023-08-21 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003234237 SCV003932215 uncertain significance not provided 2023-03-22 criteria provided, single submitter clinical testing PM2

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