ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7266C>T (p.Leu2422=)

gnomAD frequency: 0.01118  dbSNP: rs117306121
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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) RCV000117975 SCV000332044 benign not specified 2015-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000117975 SCV000514146 benign not specified 2016-01-28 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 RCV000525975 SCV000650401 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
Athena Diagnostics Inc RCV000117975 SCV001475385 benign not specified 2020-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000117975 SCV000152283 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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