Submissions for variant NM_201384.3(PLEC):c.5304G>A (p.Leu1768=)

gnomAD frequency: 0.00400  dbSNP: rs186670912

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000177621	SCV000332567	likely benign	not specified	2015-07-17	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000415964	SCV000493362	likely benign	not provided	2016-08-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000415964	SCV000524880	benign	not provided	2018-03-22	criteria provided, single submitter	clinical testing
Invitae	RCV001083734	SCV000650315	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	2024-02-01	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000177621	SCV001475295	benign	not specified	2020-06-24	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000177621	SCV001741061	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000415964	SCV001798966	likely benign	not provided		no assertion criteria provided	clinical testing