ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.603-91G>A (rs3812718)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PharmGKB RCV000211149 SCV000268302 drug response carbamazepine response - Dosage 2017-11-23 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000211277 SCV000268303 drug response phenytoin response - Dosage 2016-07-11 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000417184 SCV000494705 drug response antiepileptics response - Efficacy 2016-04-07 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
PharmGKB RCV000417147 SCV000494706 drug response carbamazepine response - Efficacy 2016-04-07 reviewed by expert panel curation PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.
OMIM RCV000013759 SCV000034006 risk factor Febrile seizures, familial, 3a 2009-12-01 no assertion criteria provided literature only

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