Submissions for variant NM_201384.3(PLEC):c.2458-7G>A

gnomAD frequency: 0.00010  dbSNP: rs372799330

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000725774	SCV000339292	uncertain significance	not provided	2016-02-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083481	SCV000650206	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	2024-11-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000304342	SCV000717650	likely benign	not specified	2017-03-29	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.
Revvity Omics, Revvity	RCV000725774	SCV003817424	uncertain significance	not provided	2022-04-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000725774	SCV004156389	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	PLEC: BP4