ClinVar Miner

Submissions for variant NM_001033044.4(GLUL):c.3G>A (p.Met1Ile)

dbSNP: rs2101936697
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755207 SCV001996073 uncertain significance not provided 2020-01-06 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Initiation codon variant in a gene for which loss-of-function is not a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge
Undiagnosed Diseases Network, NIH RCV001788835 SCV002030292 uncertain significance Glutamine related condition 2021-09-07 criteria provided, single submitter clinical testing
Women's and Children's Health, University of Otago RCV003883701 SCV004177219 likely pathogenic Glutamine synthetase stabilization disorder 2023-12-01 no assertion criteria provided clinical testing
OMIM RCV004526144 SCV005038961 pathogenic Developmental and epileptic encephalopathy 116 2024-04-30 no assertion criteria provided literature only

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