ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.96+10G>A

gnomAD frequency: 0.00090  dbSNP: rs188940236
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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 RCV000879344 SCV001022366 benign Herpes simplex encephalitis, susceptibility to, 1 2025-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930477 SCV004743649 benign UNC93B1-related disorder 2024-02-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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