ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.378T>G (p.Ala126=)

dbSNP: rs6993938
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179315 SCV000331954 benign not specified 2015-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001698994 SCV000523690 likely benign not provided 2020-10-07 criteria provided, single submitter clinical testing
Invitae RCV000541038 SCV000650282 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
Athena Diagnostics Inc RCV000179315 SCV001879986 benign not specified 2020-09-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000179315 SCV002071460 likely benign not specified 2019-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001698994 SCV004156400 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PLEC: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003927677 SCV004741703 benign PLEC-related condition 2021-11-23 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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000179315 SCV001744495 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001698994 SCV001927078 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001698994 SCV001972068 likely benign not provided no assertion criteria provided clinical testing

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