Submissions for variant NM_201384.3(PLEC):c.7830G>A (p.Ala2610=)

dbSNP: rs376112916

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712761	SCV000203298	uncertain significance	not provided	2017-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000712761	SCV000533557	likely benign	not provided	2018-10-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087716	SCV000770421	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	2023-12-20	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712761	SCV000843285	benign	not provided	2017-11-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712761	SCV004163484	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004544402	SCV004790011	likely benign	PLEC-related disorder	2019-04-12	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).