ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.97-8G>T

gnomAD frequency: 0.00220  dbSNP: rs539458551
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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 RCV000967217 SCV001114593 benign Herpes simplex encephalitis, susceptibility to, 1 2024-11-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960784 SCV004774130 likely benign UNC93B1-related disorder 2019-07-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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