Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

Minimum review status of the submission from Eurofins NTD LLC (GA):		Collection method of the submission from Eurofins NTD LLC (GA):
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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)	rs144200355	0.00179
NM_000257.4(MYH7):c.2769C>T (p.Asn923=)	rs36211716	0.00060
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)	rs141633456	0.00025
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)	rs754527651	0.00003
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=)	rs727503693	0.00002
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=)	rs377763336	0.00001

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.