Submissions for variant NM_201384.3(PLEC):c.4524G>A (p.Gln1508=)

gnomAD frequency: 0.00029  dbSNP: rs370168097

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087481	SCV000770424	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	2024-01-22	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727685	SCV000855019	uncertain significance	not provided	2017-06-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000727685	SCV001773168	uncertain significance	not provided	2021-01-19	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Athena Diagnostics	RCV001706135	SCV001879987	likely benign	not specified	2021-04-23	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727685	SCV003816746	benign	not provided	2023-08-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000727685	SCV004163531	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7