ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser)

gnomAD frequency: 0.00031  dbSNP: rs189233521
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597334 SCV000701254 uncertain significance not provided 2016-10-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088460 SCV001005060 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 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV000597334 SCV001739112 likely benign not provided 2021-03-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32707200)
PreventionGenetics, part of Exact Sciences RCV004543310 SCV004764346 likely benign PLEC-related disorder 2020-03-23 no assertion criteria provided 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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