Submissions for variant NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys)

gnomAD frequency: 0.00022  dbSNP: rs372256096

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000518288	SCV000614628	benign	not specified	2021-02-24	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726855	SCV000703645	uncertain significance	not provided	2016-12-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001081655	SCV000770412	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	2023-12-06	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726855	SCV002821913	uncertain significance	not provided	2022-12-01	criteria provided, single submitter	clinical testing	PLEC: PP3
Revvity Omics, Revvity	RCV000726855	SCV003815626	uncertain significance	not provided	2021-10-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004737592	SCV005362597	likely benign	PLEC-related disorder	2024-09-06	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).