ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9435C>T (p.Asp3145=)

gnomAD frequency: 0.00708  dbSNP: rs60091617
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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) RCV000117983 SCV000332595 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
Invitae RCV000531341 SCV000650473 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 2024-01-15 criteria provided, single submitter clinical testing
GeneDx RCV000117983 SCV000732058 benign not specified 2017-02-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000117983 SCV001475971 benign not specified 2020-02-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905125 SCV004732272 benign PLEC-related condition 2019-03-29 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV000117983 SCV000152299 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.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001729394 SCV001979921 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000117983 SCV001980370 benign not specified no assertion criteria provided clinical testing

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