ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.135G>A (p.Glu45=)

gnomAD frequency: 0.00119  dbSNP: rs572359733
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532345 SCV000648203 likely benign Herpes simplex encephalitis, susceptibility to, 1 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702676 SCV004137058 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing UNC93B1: BP4, BP7
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702676 SCV001929244 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702676 SCV001974404 likely benign not provided no assertion criteria provided clinical testing

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