Submissions for variant NM_201384.3(PLEC):c.8613C>T (p.Cys2871=)

gnomAD frequency: 0.00040  dbSNP: rs35821434

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726443	SCV000528117	likely benign	not provided	2021-03-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726443	SCV000701411	uncertain significance	not provided	2017-01-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087715	SCV001015913	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	2024-01-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000726443	SCV001145101	benign	not provided	2018-12-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726443	SCV004163470	likely benign	not provided	2022-05-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV004737482	SCV005344699	benign	PLEC-related disorder	2024-07-16	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).