ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics, Research Centre for Medical Genetics RCV003231066 SCV003928203 likely pathogenic Developmental and epileptic encephalopathy, 41 2023-06-02 criteria provided, single submitter clinical testing

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