ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2304+9dup

dbSNP: rs35671527
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000214823 SCV000269668 benign not specified 2014-11-26 criteria provided, single submitter clinical testing c.2715+13_2715+14insG in intron 19 of PLEC: This variant is not expected to have clinical significance because it has been identified in 39% (3115/8010) of Euro pean American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.w ashington.edu/EVS/; dbSNP rs35671527).
PreventionGenetics, part of Exact Sciences RCV000214823 SCV000304317 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078853 SCV000729978 benign not provided 2018-06-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789054 SCV002031393 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789051 SCV002031394 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789050 SCV002031395 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789052 SCV002031396 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789053 SCV002031398 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055102 SCV002355369 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2024-02-01 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000078853 SCV000110713 uncertain significance not provided 2013-03-04 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.