Variants with conflicting interpretations "likely benign" from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute and "uncertain significance" from any submitter

Minimum review status of the submission from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute:		Collection method of the submission from Agnes Ginges Centre for Molecular Cardiology, Centenary Institute:
Minimum review status of the other submission:		Collection method of the other submission:
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_000169.3(GLA):c.937G>T (p.Asp313Tyr)	rs28935490	0.00308
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	rs146664754	0.00055
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)	rs104894363	0.00020
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)	rs376754645	0.00006
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	rs139794067
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)	rs397517953
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del)	rs730880049

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.