Submissions for variant NM_201384.3(PLEC):c.12628G>A (p.Ala4210Thr)

gnomAD frequency: 0.00114  dbSNP: rs199941693

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000531697	SCV000650174	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	2025-01-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000597880	SCV000701137	likely benign	not specified	2017-01-06	criteria provided, single submitter	clinical testing
GeneDx	RCV001562736	SCV001785548	likely benign	not provided	2019-12-12	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001562736	SCV004163429	likely benign	not provided	2023-07-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001562736	SCV005222277	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV004543189	SCV004786826	likely benign	PLEC-related disorder	2020-10-23	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).