ClinVar Miner

Submissions for variant NM_030930.4(UNC93B1):c.444C>T (p.Leu148=)

gnomAD frequency: 0.00063  dbSNP: rs368427313
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000887737 SCV001031317 likely benign Herpes simplex encephalitis, susceptibility to, 1 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003396530 SCV004137055 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing UNC93B1: BP4, BP7

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