ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys)

gnomAD frequency: 0.00503  dbSNP: rs77303974
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
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 RCV000078829 SCV000270741 likely benign not specified 2016-03-03 criteria provided, single submitter clinical testing p.Arg3446Cys in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it has been identified in 0.7% (513/64856) of European chrom osomes, including two homozygotes by the Exome Aggregation Consortium (ExAC, htt p://exac.broadinstitute.org; dbSNP rs77303974).
Eurofins Ntd Llc (ga) RCV000078829 SCV000336987 benign not specified 2016-06-17 criteria provided, single submitter clinical testing
GeneDx RCV000659111 SCV000514158 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29334134, 32707200)
Genetic Services Laboratory, University of Chicago RCV000078829 SCV000596435 likely benign not specified 2016-12-08 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000659111 SCV000614591 benign not provided 2018-12-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080785 SCV000677058 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 2025-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000659111 SCV000780924 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing PLEC: BS2
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731364 SCV001984741 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2019-12-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000659111 SCV005222291 likely benign not provided criteria provided, single submitter not provided

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.