Submissions for variant NM_201384.3(PLEC):c.10759C>T (p.Leu3587=)

gnomAD frequency: 0.00326  dbSNP: rs200006106

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000078836	SCV000332023	benign	not specified	2015-07-07	criteria provided, single submitter	clinical testing
GeneDx	RCV000513546	SCV000529561	likely benign	not provided	2021-11-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513546	SCV000609324	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7, BS2
Invitae	RCV001081533	SCV000650145	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	RCV000513546	SCV000843232	benign	not provided	2017-11-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935019	SCV004752322	benign	PLEC-related condition	2021-03-03	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).
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000513546	SCV001800381	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000513546	SCV001964024	likely benign	not provided		no assertion criteria provided	clinical testing