ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8253C>T (p.Asn2751=)

gnomAD frequency: 0.29844  dbSNP: rs11777402
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078899 SCV000110759 benign not specified 2013-04-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078899 SCV000269700 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asn2888Asn in exon 32 of PLEC: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 40.8% (3418/8374) of European American chromosomes from a broad population by the NHLBI Exome Seq uencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11777402).
PreventionGenetics, part of Exact Sciences RCV000078899 SCV000304351 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001516980 SCV001725361 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 RCV001668186 SCV001888423 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789120 SCV002032039 benign Epidermolysis bullosa simplex with nail dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789117 SCV002032040 benign Epidermolysis bullosa simplex, Ogna type 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789116 SCV002032041 benign Epidermolysis bullosa simplex 5B, with muscular dystrophy 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789118 SCV002032042 benign Epidermolysis bullosa simplex 5C, with pyloric atresia 2021-10-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001789119 SCV002032043 benign Autosomal recessive limb-girdle muscular dystrophy type 2Q 2021-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078899 SCV000152292 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.

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