ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.167-12T>A

gnomAD frequency: 0.00012  dbSNP: rs367852420
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002198948 SCV002491652 likely benign Congenital brain dysgenesis due to glutamine synthetase deficiency 2024-11-18 criteria provided, single submitter clinical testing

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