Submissions for variant NM_201384.3(PLEC):c.7062G>A (p.Ala2354=)

gnomAD frequency: 0.00043  dbSNP: rs375587611

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724225	SCV000229517	uncertain significance	not provided	2017-04-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000724225	SCV000528806	likely benign	not provided	2019-09-04	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083171	SCV000770423	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	2025-01-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724225	SCV004163493	likely benign	not provided	2022-10-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV004700540	SCV005203824	likely benign	not specified	2024-07-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737273	SCV005352504	likely benign	PLEC-related disorder	2024-03-28	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).