ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2457+6C>T

gnomAD frequency: 0.66214  dbSNP: rs11780911
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117959 SCV000203310 benign not specified 2016-02-12 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117959 SCV000269669 benign not specified 2015-01-13 criteria provided, single submitter clinical testing c.2868+6C>T in intron 20 of PLEC: This variant is not expected to have clinical significance because it has been identified in 45.4% (1842/4060) of African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs11780911).
PreventionGenetics, part of Exact Sciences RCV000117959 SCV000304319 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001520617 SCV001729758 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
GeneDx RCV001534504 SCV001751439 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789159 SCV002031388 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789156 SCV002031389 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789155 SCV002031390 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789157 SCV002031391 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789158 SCV002031392 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117959 SCV000152245 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000117959 SCV001743431 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000117959 SCV001918742 benign not specified no assertion criteria provided clinical testing

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