ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.9718G>A (p.Glu3240Lys)

gnomAD frequency: 0.00263  dbSNP: rs75857070
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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) RCV000270984 SCV000337545 likely benign not specified 2016-08-31 criteria provided, single submitter clinical testing
GeneDx RCV000537651 SCV000529326 likely benign not provided 2020-04-20 criteria provided, single submitter clinical testing
Invitae RCV001079482 SCV000650482 likely 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 2023-12-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000537651 SCV001155509 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920083 SCV004731376 benign PLEC-related condition 2023-08-21 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).

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