ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1237T>A (p.Tyr413Asn)

dbSNP: rs121917967
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UniProtKB/Swiss-Prot RCV000059381 SCV000090905 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided
GenomeConnect, ClinGen RCV000059381 SCV000681403 not provided Severe myoclonic epilepsy in infancy no assertion provided phenotyping only Variant interpreted as "disease-associated mutation" and reported on 06/30/2007 by Lab or GTR ID 1012. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000059381 SCV001443821 pathogenic Severe myoclonic epilepsy in infancy no assertion criteria provided literature only

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