ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.1A>C (p.Met1Leu)

dbSNP: rs1131691970
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's and Children's Health, University of Otago RCV003885347 SCV004177222 likely pathogenic Glutamine synthetase stabilization disorder 2023-12-01 no assertion criteria provided clinical testing
OMIM RCV004526259 SCV005038963 pathogenic Developmental and epileptic encephalopathy, 16 2024-04-30 no assertion criteria provided literature only

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