Variants in gene CAPN3 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status:		Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status:		Submission 2 (benign) method:
Gene type: Distinguish antisense genes from sense genes
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_000070.3(CAPN3):c.62G>A (p.Gly21Glu)	rs28364364	0.01193
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)	rs28364543	0.01154
NM_000070.3(CAPN3):c.2381-12A>G	rs73402734	0.00578
NM_000070.3(CAPN3):c.1746-20C>G	rs201892814	0.00320
NM_000070.3(CAPN3):c.930T>C (p.Asp310=)	rs150356488	0.00259
NM_000070.3(CAPN3):c.2264-11C>T	rs28364537	0.00195
NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)	rs144944366	0.00167
NM_000070.3(CAPN3):c.525C>T (p.Asp175=)	rs144383442	0.00064
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)	rs147774793	0.00044
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His)	rs146309264	0.00039
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=)	rs147914333	0.00005

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.