ClinVar Miner

Submissions for variant NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003493158 SCV004237309 uncertain significance Developmental and epileptic encephalopathy, 41 2023-10-31 criteria provided, single submitter clinical testing

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