Variants with conflicting interpretations "likely pathogenic" from Color Diagnostics, LLC DBA Color Health and "pathogenic" from CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health:		Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
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: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln)	rs397516354	0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe)	rs727504242	0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys)	rs397516463	0.00001
NM_004415.4(DSP):c.2436+2T>C	rs774514264	0.00001
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	rs794728195
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	rs397515905
NM_000256.3(MYBPC3):c.906-36G>A	rs864622197
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	rs397516127
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	rs397516264
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	rs267607571

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.