Variants in gene SOS1 with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely 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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)	rs757094189	0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	rs886041241	0.00001
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys)	rs730881046
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)	rs1553353452
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly)	rs886041923

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.