Submissions for variant NM_201384.3(PLEC):c.6426C>T (p.Ala2142=)

gnomAD frequency: 0.00054  dbSNP: rs200062782

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000340729	SCV000337847	uncertain significance	not provided	2018-06-21	criteria provided, single submitter	clinical testing
Invitae	RCV001082281	SCV000650378	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	2024-01-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000340729	SCV001155524	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	PLEC: BP4, BP7
GeneDx	RCV000340729	SCV001768033	likely benign	not provided	2019-10-08	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000340729	SCV001743880	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000340729	SCV001974985	likely benign	not provided		no assertion criteria provided	clinical testing