ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.901C>T (p.Pro301Ser)

dbSNP: rs1889966666
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV002274159 SCV002558966 pathogenic Neurodevelopmental delay criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251774 SCV001427516 likely pathogenic Epilepsy, childhood absence, susceptibility to, 5 2019-01-01 no assertion criteria provided clinical testing

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