ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1260G>T (p.Met420Ile)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003221773 SCV003916015 likely pathogenic Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-18 criteria provided, single submitter clinical testing

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