Variants with conflicting interpretations "likely pathogenic" from Institute for Genomic Medicine, Nationwide Children's Hospital and "uncertain significance" from any submitter

Minimum review status of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:		Collection method of the submission from Institute for Genomic Medicine, Nationwide Children's Hospital:
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: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)	rs1801248	0.02598
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)	rs74653330	0.00630
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	rs146539065	0.00004
NM_001100.4(ACTA1):c.809-10C>A	rs1659945481
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del)	rs1470699812

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.