ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.12561C>T (p.Asp4187=)

gnomAD frequency: 0.08588  dbSNP: rs11998271
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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) RCV000078843 SCV000110703 benign not specified 2013-04-18 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000078843 SCV000269657 benign not specified 2015-01-13 criteria provided, single submitter clinical testing p.Asp4324Asp 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 26.9% (1134/4218) of African American chromosomes from a broad population by the NHLBI Exome Sequ encing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11998271).
Labcorp Genetics (formerly Invitae), Labcorp RCV000529639 SCV000650173 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 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001711182 SCV001938922 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001711182 SCV005267402 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000078843 SCV000152232 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.
Clinical Genetics, Academic Medical Center RCV000078843 SCV002034512 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001711182 SCV002036751 likely benign not provided no assertion criteria provided clinical testing

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