Submissions for variant NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg)

gnomAD frequency: 0.00141  dbSNP: rs201655861

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724835	SCV000331982	uncertain significance	not provided	2017-06-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000335436	SCV000725473	likely benign	not specified	2017-12-11	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV001083618	SCV001017204	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	2024-01-08	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000335436	SCV001880004	likely benign	not specified	2021-01-06	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955424	SCV004769700	likely benign	PLEC-related condition	2023-12-21	criteria provided, single submitter	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).