Variants with conflicting interpretations "uncertain significance" from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine and "likely benign" from any submitter

Minimum review status of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:		Collection method of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:
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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)	rs138819868	0.00290
NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu)	rs151246825	0.00270
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	rs41275239	0.00212
NM_001036.6(RYR3):c.2486G>A (p.Arg829His)	rs199500216	0.00128
NM_001849.4(COL6A2):c.*5G>A	rs377195134	0.00026
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)	rs145882956	0.00011
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)	rs146113445	0.00002
Single allele

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.