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

dbSNP: rs6993938

Total submissions: 10

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
Labcorp Genetics (formerly Invitae), Labcorp	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	2025-02-02	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000179315	SCV001879986	benign	not specified	2024-08-29	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	2024-12-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7, BS2
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
PreventionGenetics, part of Exact Sciences	RCV004537485	SCV004741703	benign	PLEC-related disorder	2021-11-23	no assertion criteria provided	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).