ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3717C>T (p.Ala1239=)

gnomAD frequency: 0.04668  dbSNP: rs112173070
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000117965 SCV000203305 benign not specified 2014-01-23 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000117965 SCV000304325 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000117965 SCV000514136 benign not specified 2016-03-21 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.
Invitae RCV000541392 SCV000650256 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 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117965 SCV000152253 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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