Submissions for variant NM_201384.3(PLEC):c.4366G>A (p.Val1456Met)

gnomAD frequency: 0.00427  dbSNP: rs186848953

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000313406	SCV000333651	likely benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing
GeneDx	RCV000549016	SCV000523664	likely benign	not provided	2020-12-21	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32707200)
Athena Diagnostics Inc	RCV000549016	SCV000614636	benign	not provided	2018-12-28	criteria provided, single submitter	clinical testing
Invitae	RCV001083420	SCV000650277	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	2024-01-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000549016	SCV001155538	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	PLEC: BS1, BS2
Genetic Services Laboratory, University of Chicago	RCV000313406	SCV002071459	likely benign	not specified	2018-05-17	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000549016	SCV001797699	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000549016	SCV001929617	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000549016	SCV001967721	likely benign	not provided		no assertion criteria provided	clinical testing