ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.6438G>A (p.Ala2146=)

gnomAD frequency: 0.00108  dbSNP: rs374211586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001088364 SCV000650379 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 2023-12-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000593117 SCV000701038 likely benign not specified 2017-05-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000535874 SCV001155523 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003945284 SCV004765336 likely benign PLEC-related condition 2019-04-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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