Variants in gene CCDC40 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status:		Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) 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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.2832+466_2832+467del	rs570440845	0.00603
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala)	rs201709592	0.00245
NM_017950.4(CCDC40):c.1673C>G (p.Thr558Arg)	rs191736683	0.00200
NM_017950.4(CCDC40):c.856-18G>A	rs189118723	0.00151
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile)	rs117307093	0.00123
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn)	rs200958035	0.00062
NM_017950.4(CCDC40):c.2229G>C (p.Glu743Asp)	rs377219039	0.00020
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys)	rs201166295	0.00016
NM_017950.4(CCDC40):c.2911G>A (p.Val971Ile)	rs746632559	0.00009
NM_017950.4(CCDC40):c.660C>T (p.Phe220=)	rs200678214	0.00007
NM_017950.4(CCDC40):c.1246C>T (p.Arg416Cys)	rs1489341724	0.00001
NM_017950.4(CCDC40):c.3245G>A (p.Arg1082His)	rs773033304	0.00001
NM_017950.4(CCDC40):c.2169C>T (p.Ile723=)	rs200641382
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His)	rs61686936
NM_017950.4(CCDC40):c.490G>A (p.Gly164Arg)	rs770564150

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.