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

gnomAD frequency: 0.00321  dbSNP: rs193257576

Total submissions: 10

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)
Labcorp Genetics (formerly Invitae), Labcorp	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	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	2024-07-01	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
PreventionGenetics, part of Exact Sciences	RCV004537437	SCV004748133	likely benign	PLEC-related disorder	2023-12-01	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).