Submissions for variant NM_201384.3(PLEC):c.4446G>A (p.Ala1482=)

gnomAD frequency: 0.00016  dbSNP: rs782202249

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000712740	SCV000339468	uncertain significance	not provided	2018-02-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000375878	SCV000714947	likely benign	not specified	2017-11-07	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.
Athena Diagnostics Inc	RCV000712740	SCV000843262	likely benign	not provided	2017-09-22	criteria provided, single submitter	clinical testing
Invitae	RCV001078715	SCV001006000	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	2024-01-11	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000712740	SCV003809112	benign	not provided	2024-01-19	criteria provided, single submitter	clinical testing