ClinVar Miner

Submissions for variant NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys)

dbSNP: rs2124905696
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV003444911 SCV001738468 likely pathogenic Epilepsy with myoclonic atonic seizures no assertion criteria provided clinical testing

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