ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2932A>G (p.Ser978Gly)

dbSNP: rs1057519540
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics Laboratory - MEYER, AOU Meyer RCV000417010 SCV000494533 likely pathogenic Epileptic encephalopathy 2016-11-16 criteria provided, single submitter clinical testing
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV003335314 SCV004045845 pathogenic Developmental and epileptic encephalopathy, 13 2023-05-16 criteria provided, single submitter clinical testing

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