ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.8025C>T (p.Gly2675=)

gnomAD frequency: 0.05241  dbSNP: rs35139934
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117978 SCV000229638 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000117978 SCV000269699 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Gly2812Gly 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 7.7% (656/8506) o f European American chromosomes from a broad population by the NHLBI Exome Seque ncing Project (http://evs.gs.washington.edu/EVS; dbSNP rs35139934).
PreventionGenetics, part of Exact Sciences RCV000117978 SCV000304350 likely benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics RCV000712762 SCV000843286 benign not provided 2018-06-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001521010 SCV001730258 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 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000712762 SCV001837336 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000712762 SCV005222301 likely benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000117978 SCV000152290 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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