ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.10497C>T (p.Asn3499=)

gnomAD frequency: 0.00160  dbSNP: rs113113366
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) RCV000297582 SCV000333311 likely benign not specified 2015-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000558645 SCV000650138 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 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001547286 SCV001766951 likely benign not provided 2020-10-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001547286 SCV001962159 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing PLEC: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV001547286 SCV005222287 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535271 SCV004751742 likely benign PLEC-related disorder 2019-06-17 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.