ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)

gnomAD frequency: 0.00321  dbSNP: rs193257576
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177598 SCV000229496 benign not specified 2014-05-08 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177598 SCV000248533 uncertain significance not specified 2015-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000712756 SCV000524051 likely benign not provided 2020-09-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32707200)
Invitae RCV001086675 SCV000650402 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 2024-01-25 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712756 SCV000843280 benign not provided 2018-03-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000712756 SCV001155517 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing PLEC: BP4, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000712756 SCV001744722 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000712756 SCV001966831 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000712756 SCV002037061 likely benign not provided no assertion criteria provided clinical testing

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