List of variants reported as pathogenic for Familial cancer of breast by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)	rs555607708	0.00181
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)	rs180177132	0.00002
NM_024675.4(PALB2):c.758dup (p.Ser254fs)	rs515726126	0.00001
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	rs730881388
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)	rs515726117
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)	rs180177092

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.