ClinVar Miner

Submissions for variant NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)

dbSNP: rs1564197227
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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 RCV000767382 SCV000897646 likely pathogenic Developmental and epileptic encephalopathy, 5 2019-04-04 criteria provided, single submitter clinical testing de novo

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