ClinVar Miner

Submissions for variant NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)

gnomAD frequency: 0.03201  dbSNP: rs6232
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731192 SCV000858974 benign not specified 2018-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001636601 SCV001851530 benign not provided 2021-06-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31504391, 28271036, 18604207, 23383060, 22000902, 25784503, 19528091)
Labcorp Genetics (formerly Invitae), Labcorp RCV001636601 SCV002403687 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
OMIM RCV000022673 SCV000043962 risk factor Body mass index quantitative trait locus 12 2008-08-01 no assertion criteria provided literature only
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000731192 SCV001978206 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000731192 SCV001979060 benign not specified no assertion criteria provided clinical testing

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.