Variants in gene SCN8A with conflicting interpretations "pathogenic" and "uncertain significance"

Submission 1 (pathogenic) minimum review status:		Submission 1 (pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)	rs863223345
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val)	rs886041670
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)	rs1555230905
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)	rs587777721
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)	rs587780455

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.